11-9287776-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015012.4(TMEM41B):c.493A>G(p.Met165Val) variant causes a missense change. The variant allele was found at a frequency of 0.00000137 in 1,461,068 control chromosomes in the GnomAD database, with no homozygous occurrence. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015012.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM41B | NM_015012.4 | c.493A>G | p.Met165Val | missense_variant | Exon 5 of 7 | ENST00000528080.6 | NP_055827.1 | |
TMEM41B | XM_047426969.1 | c.500A>G | p.Tyr167Cys | missense_variant | Exon 5 of 6 | XP_047282925.1 | ||
TMEM41B | NR_028491.3 | n.645A>G | non_coding_transcript_exon_variant | Exon 5 of 8 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1461068Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726836
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.493A>G (p.M165V) alteration is located in exon 5 (coding exon 5) of the TMEM41B gene. This alteration results from a A to G substitution at nucleotide position 493, causing the methionine (M) at amino acid position 165 to be replaced by a valine (V). 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