22-37084229-A-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The ENST00000442782.7(TMPRSS6):āc.1262T>Cā(p.Ile421Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.243 in 1,329,838 control chromosomes in the GnomAD database, including 39,883 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/13 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ).
Frequency
Consequence
ENST00000442782.7 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMPRSS6 | NM_001374504.1 | c.1196+66T>C | intron_variant | ENST00000676104.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMPRSS6 | ENST00000676104.1 | c.1196+66T>C | intron_variant | NM_001374504.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.264 AC: 39069AN: 148056Hom.: 5429 Cov.: 29
GnomAD3 exomes AF: 0.223 AC: 40819AN: 182858Hom.: 4904 AF XY: 0.222 AC XY: 21427AN XY: 96704
GnomAD4 exome AF: 0.241 AC: 284487AN: 1181636Hom.: 34445 Cov.: 17 AF XY: 0.239 AC XY: 142042AN XY: 594082
GnomAD4 genome AF: 0.264 AC: 39119AN: 148202Hom.: 5438 Cov.: 29 AF XY: 0.263 AC XY: 18959AN XY: 72204
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | GeneDx | Nov 12, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at