rs141817764
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS1
The NM_001044385.3(TMEM237):c.194A>G(p.Asn65Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000362 in 1,605,538 control chromosomes in the GnomAD database, including 4 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001044385.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TMEM237 | NM_001044385.3 | c.194A>G | p.Asn65Ser | missense_variant | 5/13 | ENST00000409883.7 | |
TMEM237 | NM_152388.4 | c.170A>G | p.Asn57Ser | missense_variant | 5/13 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TMEM237 | ENST00000409883.7 | c.194A>G | p.Asn65Ser | missense_variant | 5/13 | 5 | NM_001044385.3 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00190 AC: 289AN: 152238Hom.: 1 Cov.: 32
GnomAD3 exomes AF: 0.000446 AC: 105AN: 235590Hom.: 0 AF XY: 0.000345 AC XY: 44AN XY: 127454
GnomAD4 exome AF: 0.000198 AC: 288AN: 1453182Hom.: 3 Cov.: 33 AF XY: 0.000186 AC XY: 134AN XY: 721846
GnomAD4 genome ? AF: 0.00193 AC: 294AN: 152356Hom.: 1 Cov.: 32 AF XY: 0.00178 AC XY: 133AN XY: 74510
ClinVar
Submissions by phenotype
not specified Benign:2
Benign, criteria provided, single submitter | clinical testing | Eurofins Ntd Llc (ga) | Jul 02, 2015 | - - |
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | Aug 01, 2018 | - - |
Joubert syndrome 14 Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jan 22, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at