chrX-50598377-C-A
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_020717.5(SHROOM4):c.4101G>T(p.Leu1367Phe) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0049 in 1,209,098 control chromosomes in the GnomAD database, including 113 homozygotes. There are 1,771 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_020717.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
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SHROOM4 | ENST00000376020.9 | c.4101G>T | p.Leu1367Phe | missense_variant | Exon 8 of 9 | 2 | NM_020717.5 | ENSP00000365188.2 | ||
SHROOM4 | ENST00000289292.11 | c.4101G>T | p.Leu1367Phe | missense_variant | Exon 8 of 10 | 1 | ENSP00000289292.7 | |||
SHROOM4 | ENST00000460112.3 | c.3753G>T | p.Leu1251Phe | missense_variant | Exon 7 of 8 | 5 | ENSP00000421450.1 |
Frequencies
GnomAD3 genomes AF: 0.00648 AC: 722AN: 111378Hom.: 14 Cov.: 23 AF XY: 0.00721 AC XY: 242AN XY: 33546
GnomAD3 exomes AF: 0.0139 AC: 2516AN: 181444Hom.: 75 AF XY: 0.00959 AC XY: 633AN XY: 66008
GnomAD4 exome AF: 0.00475 AC: 5209AN: 1097671Hom.: 99 Cov.: 32 AF XY: 0.00421 AC XY: 1529AN XY: 363047
GnomAD4 genome AF: 0.00647 AC: 721AN: 111427Hom.: 14 Cov.: 23 AF XY: 0.00720 AC XY: 242AN XY: 33605
ClinVar
Submissions by phenotype
not specified Benign:5
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This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. -
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not provided Benign:2
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at