NM_004341.5:c.6343G>C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004341.5(CAD):āc.6343G>Cā(p.Val2115Leu) variant causes a missense change. The variant allele was found at a frequency of 0.00893 in 1,614,172 control chromosomes in the GnomAD database, including 85 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_004341.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CAD | NM_004341.5 | c.6343G>C | p.Val2115Leu | missense_variant | Exon 41 of 44 | ENST00000264705.9 | NP_004332.2 | |
CAD | NM_001306079.2 | c.6154G>C | p.Val2052Leu | missense_variant | Exon 40 of 43 | NP_001293008.1 | ||
CAD | XM_047445803.1 | c.6394G>C | p.Val2132Leu | missense_variant | Exon 42 of 45 | XP_047301759.1 | ||
CAD | XM_006712101.4 | c.6205G>C | p.Val2069Leu | missense_variant | Exon 41 of 44 | XP_006712164.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CAD | ENST00000264705.9 | c.6343G>C | p.Val2115Leu | missense_variant | Exon 41 of 44 | 1 | NM_004341.5 | ENSP00000264705.3 | ||
CAD | ENST00000403525.5 | c.6154G>C | p.Val2052Leu | missense_variant | Exon 40 of 43 | 1 | ENSP00000384510.1 | |||
CAD | ENST00000428460.1 | c.448G>C | p.Val150Leu | missense_variant | Exon 3 of 5 | 5 | ENSP00000405416.1 |
Frequencies
GnomAD3 genomes AF: 0.00556 AC: 846AN: 152212Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00543 AC: 1364AN: 251292Hom.: 5 AF XY: 0.00579 AC XY: 787AN XY: 135866
GnomAD4 exome AF: 0.00928 AC: 13566AN: 1461842Hom.: 85 Cov.: 33 AF XY: 0.00904 AC XY: 6572AN XY: 727230
GnomAD4 genome AF: 0.00555 AC: 846AN: 152330Hom.: 0 Cov.: 32 AF XY: 0.00502 AC XY: 374AN XY: 74490
ClinVar
Submissions by phenotype
not provided Benign:4
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CAD: BS1, BS2 -
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CAD-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Developmental and epileptic encephalopathy, 50 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at