chr4-55396207-A-G
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_018475.5(TMEM165):āc.18A>Gā(p.Pro6Pro) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.664 in 1,436,182 control chromosomes in the GnomAD database, including 319,912 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_018475.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
TMEM165 | NM_018475.5 | c.18A>G | p.Pro6Pro | synonymous_variant | Exon 1 of 6 | ENST00000381334.10 | NP_060945.2 | |
TMEM165 | XM_011534394.4 | c.18A>G | p.Pro6Pro | synonymous_variant | Exon 1 of 6 | XP_011532696.1 | ||
TMEM165 | XM_017008412.2 | c.-428A>G | 5_prime_UTR_variant | Exon 1 of 8 | XP_016863901.1 | |||
TMEM165 | NR_073070.2 | n.251A>G | non_coding_transcript_exon_variant | Exon 1 of 7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
TMEM165 | ENST00000381334.10 | c.18A>G | p.Pro6Pro | synonymous_variant | Exon 1 of 6 | 1 | NM_018475.5 | ENSP00000370736.5 | ||
TMEM165 | ENST00000506198.5 | c.18A>G | p.Pro6Pro | synonymous_variant | Exon 1 of 3 | 2 | ENSP00000425449.1 | |||
TMEM165 | ENST00000508404.5 | n.18A>G | non_coding_transcript_exon_variant | Exon 1 of 7 | 2 | ENSP00000422639.1 | ||||
TMEM165 | ENST00000514070.1 | n.-44A>G | upstream_gene_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.718 AC: 108890AN: 151698Hom.: 39644 Cov.: 33
GnomAD3 exomes AF: 0.705 AC: 50923AN: 72280Hom.: 18256 AF XY: 0.712 AC XY: 29924AN XY: 42016
GnomAD4 exome AF: 0.658 AC: 844722AN: 1284374Hom.: 280199 Cov.: 55 AF XY: 0.662 AC XY: 417873AN XY: 631672
GnomAD4 genome AF: 0.718 AC: 109013AN: 151808Hom.: 39713 Cov.: 33 AF XY: 0.725 AC XY: 53778AN XY: 74206
ClinVar
Submissions by phenotype
not specified Benign:2
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
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TMEM165-congenital disorder of glycosylation Benign:2
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Congenital disorder of glycosylation Benign:1
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not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at