22-37066896-A-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001374504.1(TMPRSS6):c.2180T>A(p.Val727Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000684 in 1,461,660 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V727A) has been classified as Benign.
Frequency
Consequence
NM_001374504.1 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMPRSS6 | NM_001374504.1 | c.2180T>A | p.Val727Asp | missense_variant | 17/18 | ENST00000676104.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMPRSS6 | ENST00000676104.1 | c.2180T>A | p.Val727Asp | missense_variant | 17/18 | NM_001374504.1 | P1 |
Frequencies
GnomAD3 genomes ? Cov.: 33
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250414Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135524
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461660Hom.: 0 Cov.: 62 AF XY: 0.00000138 AC XY: 1AN XY: 727110
GnomAD4 genome ? Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at