NM_002910.6:c.629C>T
Variant summary
Our verdict is Benign. Variant got -18 ACMG points: 2P and 20B. PM1BP4_StrongBP6_Very_StrongBS1BS2
The NM_002910.6(RENBP):c.629C>T(p.Ala210Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00277 in 1,209,051 control chromosomes in the GnomAD database, including 60 homozygotes. There are 888 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_002910.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -18 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0147 AC: 1648AN: 111968Hom.: 33 Cov.: 24 AF XY: 0.0124 AC XY: 426AN XY: 34238
GnomAD3 exomes AF: 0.00468 AC: 853AN: 182167Hom.: 14 AF XY: 0.00324 AC XY: 218AN XY: 67273
GnomAD4 exome AF: 0.00155 AC: 1704AN: 1097036Hom.: 27 Cov.: 32 AF XY: 0.00128 AC XY: 464AN XY: 362772
GnomAD4 genome AF: 0.0147 AC: 1650AN: 112015Hom.: 33 Cov.: 24 AF XY: 0.0124 AC XY: 424AN XY: 34295
ClinVar
Submissions by phenotype
not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at