Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency

Afkhami, Fatemeh; Shahbazi, Shirin; Farzadi, Laya; Danaei, Shahla

doi:10.1186/s12958-022-00913-6

Reproductive Biology and Endocrinology

Table 3 Variants annotation, allele frequencies and in-silico prediction of nonsynonymous missense alterations of BMP15

From: Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency

Reference	Position/ Substitution	Amino acids	Existing variant	AF	gnomAD AF	Iranome AF	SIFT	PolyPhen	CADD PHRED
[20]	13 A/C 50,910,796 AGT/CGT	S5R	rs113099187 CM0910176	0.0358	0.009278	-	0.01 Deleterious	0.368 Benign	13.19
[19]	181 C/T 50,910,964 CGG/TGG	R61W	rs144392417 CM061653	-	-	-	0.24 Tolerated	0 Benign	9.513
[21]	202 C/T 50,910,985 CGG/TGG	R68W	rs104894763 CM061661	0.0005	0.0006997	-	0 Deleterious	0.877 Possibly damaging	22.4
[19]	226 C/T 50,911,009 CGT/TGT	R76C	rs104894766 CM061662 COSV53141666 COSV99399454	0.0013	0.0004129	0.005625	0 Deleterious	0.959 Probably damaging	22.8
[19]	227G/A 50,911,010 CGT/CAT	R76H	rs1557279925 CM061656 COSV53140125	-	1.977e-05	-	0.06 Tolerated	0.959 Probably damaging	20.8
[22]	242 A/G 50,911,025 CAT/CGT	H81R	rs781801740	-	-	-	0.47 Tolerated	0.001 Benign	0.010
[19]	308 A/G 50,911,091 AAT/AGT	N103S	rs41308602 CM1513124 COSV53140249	0.0283	0.05707	0.07500	0.3 Tolerated	0 Benign	0.190
	309T/G 50,911,092 AAT/AAG	N103K	-	-	-	-	0.35 Tolerated	0.006 Benign	3.452
[23]	G/C 50,915,834 GTT/CTT	V136L	rs1387861526	-	5.465e-06	-	0.02 Deleterious	0.292 Benign	15.84
[20]	413G/A 50,915,841 CGC/CAC	R138H	rs371418883 CM092909 COSV53139787	-	3.281e-05	-	0.56 Tolerated	0.854 Possibly damaging	9.814
[20]	443T/C 50,915,871 CTC/CCC	L148P	rs114823607 CM061658	0.0109	0.003174	-	0 Deleterious	0.987 Probably damaging	23.0
[21]	538G/A 50,915,966 GCT/ACT	A180T	rs104894767 CM061654 CX062295 COSV53141311	0.0032	0.01001	0.006875	0.33 Tolerated	0.007 Benign	0.059
	551T/C 50,915,979 ATG/ACG	M184T	-	-	-	-	0.13 Tolerated	0.003 Benign	7.245
[22]	581T/C 50,916,009 TTC/TCC	F194S	rs141218518	0.0008	0.002045	0.001250	0.09 Tolerated	0.003 Benign	13.02
[19]	588T/A 50,916,016 AAT/AAA	N196K	CM061651	-	-	-	0.07 Tolerated	0.027 Benign	6.408
[22]	595 G/A 50,916,023 GGA/AGA	G199R	rs782378869 COSV53142031	-	2.181e-05	-	0.54 Tolerated	0.018 Benign	0.415
[24]	598 C/T 50,916,026 CAC/TAC	H200Y	rs202165852	0.0003	0.0002781	-	0.53 Tolerated	0.001 Benign	2.424
[19]	617G/A 50,916,045 CGT/CAT	R206H	rs782516193 CM061657	-	6.543e-05	-	0.46 Tolerated	0.003 Benign	0.734
[19]	661 T/C 50,916,089 TGG/CGG	W221R	rs375284458 CM061659	0.0003	0.000398	-	0.13 Tolerated	0.174 Benign	11.79
[25]	704 A/G 50,916,132 TAT/TGT	Y235C	rs104894765 CM041254	-	-	-	0 Deleterious	0.95 Probably damaging	22.7
[24]	985 C/T 50,916,413 CGC/TGC	R329C	rs782375794 CM100080 COSV99399521	-	1.653e-05	-	0.02 Deleterious	0.916 Probably damaging	22.5
[26]	986G/A 50,916,414 CGC/CAC	R329H	rs782306478	-	1.1e-05	-	0.57 Tolerated	0.007 Benign	0.095
[27]	1070G/A 50,916,498 TGT/TAT	C357Y	rs1557280378	-	1.097e-05	-	0 Deleterious	1 Probably damaging	24.3

AF Frequency of existing variants in 1000 genomes combined population, gnomAD AF Frequency of existing variants in gnomAD exomes combined population, Iranome AF Allele frequency in Iranome database

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