11-9295280-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_015012.4(TMEM41B):c.347C>T(p.Ala116Val) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000035 in 1,571,900 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A116T) has been classified 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.347C>T | p.Ala116Val | missense_variant | Exon 3 of 7 | ENST00000528080.6 | NP_055827.1 | |
TMEM41B | NM_001165030.3 | c.347C>T | p.Ala116Val | missense_variant | Exon 3 of 3 | NP_001158502.1 | ||
TMEM41B | XM_047426969.1 | c.347C>T | p.Ala116Val | missense_variant | Exon 3 of 6 | XP_047282925.1 | ||
TMEM41B | NR_028491.3 | n.499C>T | non_coding_transcript_exon_variant | Exon 3 of 8 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152136Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000454 AC: 10AN: 220394Hom.: 0 AF XY: 0.0000420 AC XY: 5AN XY: 119032
GnomAD4 exome AF: 0.0000148 AC: 21AN: 1419764Hom.: 0 Cov.: 27 AF XY: 0.00000567 AC XY: 4AN XY: 706050
GnomAD4 genome AF: 0.000223 AC: 34AN: 152136Hom.: 0 Cov.: 33 AF XY: 0.000242 AC XY: 18AN XY: 74308
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.347C>T (p.A116V) alteration is located in exon 3 (coding exon 3) of the TMEM41B gene. This alteration results from a C to T substitution at nucleotide position 347, causing the alanine (A) at amino acid position 116 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