rs113997845
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_020458.4(TTC7A):āc.873G>Cā(p.Leu291=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00977 in 1,613,746 control chromosomes in the GnomAD database, including 95 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ). Synonymous variant affecting the same amino acid position (i.e. L291L) has been classified as Likely benign.
Frequency
Consequence
NM_020458.4 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
TTC7A | NM_020458.4 | c.873G>C | p.Leu291= | synonymous_variant | 7/20 | ENST00000319190.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
TTC7A | ENST00000319190.11 | c.873G>C | p.Leu291= | synonymous_variant | 7/20 | 2 | NM_020458.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00694 AC: 1056AN: 152162Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00653 AC: 1635AN: 250204Hom.: 4 AF XY: 0.00670 AC XY: 907AN XY: 135336
GnomAD4 exome AF: 0.0101 AC: 14717AN: 1461466Hom.: 90 Cov.: 31 AF XY: 0.00980 AC XY: 7123AN XY: 727012
GnomAD4 genome ? AF: 0.00693 AC: 1056AN: 152280Hom.: 5 Cov.: 32 AF XY: 0.00614 AC XY: 457AN XY: 74454
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Feb 01, 2024 | TTC7A: BP4, BP7, BS1, BS2 - |
Multiple gastrointestinal atresias Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at