chr12-109783729-C-A
Variant summary
Our verdict is Benign. The variant received -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2
The NM_021625.5(TRPV4):c.2508G>T(p.Ser836Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000682 in 1,613,548 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. S836S) has been classified as Likely benign.
Frequency
Consequence
NM_021625.5 synonymous
Scores
Clinical Significance
Conservation
Publications
- metatropic dysplasiaInheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: Orphanet, G2P
- neuromuscular diseaseInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen
- spondylometaphyseal dysplasia, Kozlowski typeInheritance: AD Classification: DEFINITIVE, SUPPORTIVE Submitted by: G2P, Orphanet
- TRPV4-related bone disorderInheritance: AD Classification: DEFINITIVE Submitted by: ClinGen, Illumina
- autosomal dominant brachyolmiaInheritance: AD Classification: STRONG, SUPPORTIVE Submitted by: Labcorp Genetics (formerly Invitae), Orphanet, Genomics England PanelApp
- Charcot-Marie-Tooth disease axonal type 2CInheritance: AD Classification: STRONG, SUPPORTIVE Submitted by: Orphanet, Labcorp Genetics (formerly Invitae)
- scapuloperoneal spinal muscular atrophy, autosomal dominantInheritance: AD Classification: MODERATE, SUPPORTIVE Submitted by: Orphanet, Ambry Genetics
- familial avascular necrosis of femoral headInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- familial digital arthropathy-brachydactylyInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- neuronopathy, distal hereditary motor, autosomal dominant 8Inheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
- parastremmatic dwarfismInheritance: AD Classification: SUPPORTIVE Submitted by: Orphanet
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ACMG classification
Our verdict: Benign. The variant received -11 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151902Hom.: 0 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.00000684 AC: 10AN: 1461528Hom.: 0 Cov.: 31 AF XY: 0.00000550 AC XY: 4AN XY: 727062 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152020Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74298 show subpopulations
ClinVar
Submissions by phenotype
Charcot-Marie-Tooth disease axonal type 2C Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at