rs371202740
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_004070.4(CLCNKA):c.2055T>A(p.Ala685=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000229 in 1,310,198 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. A685A) has been classified as Likely benign.
Frequency
Consequence
NM_004070.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CLCNKA | NM_004070.4 | c.2055T>A | p.Ala685= | synonymous_variant | 20/20 | ENST00000331433.5 | |
CLCNKA | NM_001042704.2 | c.2052T>A | p.Ala684= | synonymous_variant | 20/20 | ||
CLCNKA | NM_001257139.2 | c.1926T>A | p.Ala642= | synonymous_variant | 19/19 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CLCNKA | ENST00000331433.5 | c.2055T>A | p.Ala685= | synonymous_variant | 20/20 | 1 | NM_004070.4 | P4 | |
CLCNKA | ENST00000375692.5 | c.2052T>A | p.Ala684= | synonymous_variant | 21/21 | 1 | A1 | ||
CLCNKA | ENST00000439316.6 | c.1926T>A | p.Ala642= | synonymous_variant | 19/19 | 2 | |||
CLCNKA | ENST00000464764.5 | n.2659T>A | non_coding_transcript_exon_variant | 24/24 | 2 |
Frequencies
GnomAD3 genomes ? Cov.: 21
GnomAD3 exomes AF: 0.00000442 AC: 1AN: 226374Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 121954
GnomAD4 exome AF: 0.00000229 AC: 3AN: 1310198Hom.: 0 Cov.: 41 AF XY: 0.00000154 AC XY: 1AN XY: 650322
GnomAD4 genome ? Cov.: 21
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at