chr12-52243070-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005556.4(KRT7):c.917A>C(p.Asn306Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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_005556.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT7 | NM_005556.4 | c.917A>C | p.Asn306Thr | missense_variant | 6/9 | ENST00000331817.6 | |
KRT7 | XM_011538325.3 | c.917A>C | p.Asn306Thr | missense_variant | 6/8 | ||
KRT7 | XM_047428827.1 | c.917A>C | p.Asn306Thr | missense_variant | 6/7 | ||
KRT7 | XM_017019294.2 | c.386A>C | p.Asn129Thr | missense_variant | 4/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT7 | ENST00000331817.6 | c.917A>C | p.Asn306Thr | missense_variant | 6/9 | 1 | NM_005556.4 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Sep 14, 2023 | The c.917A>C (p.N306T) alteration is located in exon 6 (coding exon 6) of the KRT7 gene. This alteration results from a A to C substitution at nucleotide position 917, causing the asparagine (N) at amino acid position 306 to be replaced by a threonine (T). 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
Publications
No publications associated with this variant yet.