rs397516426
Variant summary
Our verdict is Benign. Variant got -11 ACMG points: 2P and 13B. PM2BP4_StrongBP6_Very_StrongBP7
The NM_000441.2(SLC26A4):c.2029C>A(p.Arg677=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000207 in 1,449,536 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. R677R) has been classified as Likely benign.
Frequency
Consequence
NM_000441.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -11 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SLC26A4 | NM_000441.2 | c.2029C>A | p.Arg677= | synonymous_variant | 17/21 | ENST00000644269.2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SLC26A4 | ENST00000644269.2 | c.2029C>A | p.Arg677= | synonymous_variant | 17/21 | NM_000441.2 | P1 | ||
SLC26A4 | ENST00000492030.2 | n.316C>A | non_coding_transcript_exon_variant | 2/6 | 5 | ||||
SLC26A4 | ENST00000644846.1 | c.742C>A | p.Arg248= | synonymous_variant, NMD_transcript_variant | 7/10 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250908Hom.: 0 AF XY: 0.00000738 AC XY: 1AN XY: 135590
GnomAD4 exome AF: 0.00000207 AC: 3AN: 1449536Hom.: 0 Cov.: 28 AF XY: 0.00000277 AC XY: 2AN XY: 722000
GnomAD4 genome ? Cov.: 32
ClinVar
Submissions by phenotype
not specified Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | Jul 28, 2011 | Arg677Arg in exon 17 of SLC26A4: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located n ear a splice junction. - |
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Apr 13, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at