chr12-52611288-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_175068.3(KRT73):c.1026C>G(p.Asp342Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000137 in 1,461,876 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_175068.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
KRT73 | NM_175068.3 | c.1026C>G | p.Asp342Glu | missense_variant | 6/9 | ENST00000305748.7 | |
KRT73-AS1 | NR_126005.1 | n.1438G>C | non_coding_transcript_exon_variant | 1/3 | |||
KRT73 | XM_047428761.1 | c.1026C>G | p.Asp342Glu | missense_variant | 8/11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
KRT73 | ENST00000305748.7 | c.1026C>G | p.Asp342Glu | missense_variant | 6/9 | 1 | NM_175068.3 | P1 | |
KRT73-AS1 | ENST00000551089.5 | n.102G>C | splice_region_variant, non_coding_transcript_exon_variant | 2/4 | 4 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461876Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 727238
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.1026C>G (p.D342E) alteration is located in exon 6 (coding exon 6) of the KRT73 gene. This alteration results from a C to G substitution at nucleotide position 1026, causing the aspartic acid (D) at amino acid position 342 to be replaced by a glutamic acid (E). 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.