rs151132164
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6_Very_StrongBP7
The NM_001082486.2(ACD):c.444C>T(p.Leu148=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000143 in 1,614,052 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★). Synonymous variant affecting the same amino acid position (i.e. L148L) has been classified as Likely benign.
Frequency
Consequence
NM_001082486.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ACD | NM_001082486.2 | c.444C>T | p.Leu148= | synonymous_variant | 5/12 | ENST00000620761.6 | |
ACD | NM_022914.3 | c.435C>T | p.Leu145= | synonymous_variant | 5/12 | ||
ACD | NM_001410884.1 | c.444C>T | p.Leu148= | synonymous_variant | 5/11 | ||
ACD | XR_429728.4 | n.484C>T | non_coding_transcript_exon_variant | 5/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ACD | ENST00000620761.6 | c.444C>T | p.Leu148= | synonymous_variant | 5/12 | 1 | NM_001082486.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000874 AC: 133AN: 152172Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000219 AC: 55AN: 251286Hom.: 0 AF XY: 0.000213 AC XY: 29AN XY: 135862
GnomAD4 exome AF: 0.0000664 AC: 97AN: 1461762Hom.: 0 Cov.: 34 AF XY: 0.0000688 AC XY: 50AN XY: 727162
GnomAD4 genome ? AF: 0.000880 AC: 134AN: 152290Hom.: 0 Cov.: 33 AF XY: 0.000886 AC XY: 66AN XY: 74456
ClinVar
Submissions by phenotype
Inborn genetic diseases Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 12, 2022 | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. - |
Dyskeratosis congenita, autosomal dominant 6 Benign:1
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