19-18193352-C-T
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_032683.3(MPV17L2):c.71C>T(p.Ala24Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000454 in 1,564,852 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 11/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_032683.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
MPV17L2 | NM_032683.3 | c.71C>T | p.Ala24Val | missense_variant | Exon 1 of 5 | ENST00000599612.3 | NP_116072.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
MPV17L2 | ENST00000599612.3 | c.71C>T | p.Ala24Val | missense_variant | Exon 1 of 5 | 1 | NM_032683.3 | ENSP00000469836.2 | ||
MPV17L2 | ENST00000532896.5 | n.121C>T | non_coding_transcript_exon_variant | Exon 1 of 3 | 2 | |||||
MPV17L2 | ENST00000533807.3 | n.103C>T | non_coding_transcript_exon_variant | Exon 1 of 4 | 2 | |||||
MPV17L2 | ENST00000534421.1 | n.135C>T | non_coding_transcript_exon_variant | Exon 1 of 2 | 2 |
Frequencies
GnomAD3 genomes AF: 0.000223 AC: 34AN: 152258Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000664 AC: 11AN: 165778Hom.: 0 AF XY: 0.0000974 AC XY: 9AN XY: 92424
GnomAD4 exome AF: 0.0000262 AC: 37AN: 1412594Hom.: 0 Cov.: 31 AF XY: 0.0000257 AC XY: 18AN XY: 700368
GnomAD4 genome AF: 0.000223 AC: 34AN: 152258Hom.: 0 Cov.: 33 AF XY: 0.000229 AC XY: 17AN XY: 74394
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.71C>T (p.A24V) alteration is located in exon 1 (coding exon 1) of the MPV17L2 gene. This alteration results from a C to T substitution at nucleotide position 71, causing the alanine (A) at amino acid position 24 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