rs2301354
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_003771.5(KRT36):c.944C>T(p.Thr315Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.542 in 1,612,810 control chromosomes in the GnomAD database, including 240,108 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_003771.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT36 | NM_003771.5 | c.944C>T | p.Thr315Met | missense_variant | 5/7 | ENST00000328119.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT36 | ENST00000328119.11 | c.944C>T | p.Thr315Met | missense_variant | 5/7 | 2 | NM_003771.5 | P1 | |
KRT36 | ENST00000393986.2 | c.794C>T | p.Thr265Met | missense_variant | 6/8 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.503 AC: 76389AN: 151988Hom.: 19663 Cov.: 33
GnomAD3 exomes AF: 0.546 AC: 136215AN: 249640Hom.: 38026 AF XY: 0.553 AC XY: 74651AN XY: 134964
GnomAD4 exome AF: 0.546 AC: 798076AN: 1460706Hom.: 220434 Cov.: 60 AF XY: 0.551 AC XY: 400237AN XY: 726618
GnomAD4 genome ? AF: 0.502 AC: 76428AN: 152104Hom.: 19674 Cov.: 33 AF XY: 0.501 AC XY: 37228AN XY: 74372
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at