chr19-47046123-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_017854.2(TMEM160):c.431C>T(p.Ala144Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000665 in 1,504,542 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_017854.2 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM160 | NM_017854.2 | c.431C>T | p.Ala144Val | missense_variant | 3/3 | ENST00000253047.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM160 | ENST00000253047.7 | c.431C>T | p.Ala144Val | missense_variant | 3/3 | 1 | NM_017854.2 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151848Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000969 AC: 1AN: 103244Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 57944
GnomAD4 exome AF: 0.00000444 AC: 6AN: 1352694Hom.: 0 Cov.: 32 AF XY: 0.00000449 AC XY: 3AN XY: 667690
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151848Hom.: 0 Cov.: 33 AF XY: 0.0000405 AC XY: 3AN XY: 74164
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jun 27, 2023 | The c.431C>T (p.A144V) alteration is located in exon 3 (coding exon 3) of the TMEM160 gene. This alteration results from a C to T substitution at nucleotide position 431, causing the alanine (A) at amino acid position 144 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