NM_001257.5:c.116A>G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001257.5(CDH13):āc.116A>Gā(p.Asn39Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0142 in 1,613,538 control chromosomes in the GnomAD database, including 532 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_001257.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0190 AC: 2895AN: 152222Hom.: 52 Cov.: 33
GnomAD3 exomes AF: 0.0214 AC: 5328AN: 249040Hom.: 181 AF XY: 0.0240 AC XY: 3247AN XY: 135094
GnomAD4 exome AF: 0.0137 AC: 19985AN: 1461196Hom.: 479 Cov.: 30 AF XY: 0.0156 AC XY: 11364AN XY: 726908
GnomAD4 genome AF: 0.0190 AC: 2900AN: 152342Hom.: 53 Cov.: 33 AF XY: 0.0205 AC XY: 1526AN XY: 74494
ClinVar
Submissions by phenotype
not provided Benign:2
This variant is associated with the following publications: (PMID: 27238071, 25450229) -
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not specified Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at