17-41420919-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_003770.5(KRT37):c.1309G>C(p.Gly437Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000214 in 1,613,988 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_003770.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000250 AC: 38AN: 152166Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000382 AC: 96AN: 251218Hom.: 1 AF XY: 0.000442 AC XY: 60AN XY: 135778
GnomAD4 exome AF: 0.000211 AC: 308AN: 1461704Hom.: 1 Cov.: 30 AF XY: 0.000254 AC XY: 185AN XY: 727158
GnomAD4 genome AF: 0.000250 AC: 38AN: 152284Hom.: 0 Cov.: 32 AF XY: 0.000322 AC XY: 24AN XY: 74450
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1309G>C (p.G437R) alteration is located in exon 7 (coding exon 7) of the KRT37 gene. This alteration results from a G to C substitution at nucleotide position 1309, causing the glycine (G) at amino acid position 437 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at