7-76395291-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080744.2(SSC4D):c.908C>T(p.Ala303Val) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000657 in 1,613,808 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_080744.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSC4D | NM_080744.2 | c.908C>T | p.Ala303Val | missense_variant | Exon 7 of 11 | ENST00000275560.4 | NP_542782.1 | |
SSC4D | XM_024446664.2 | c.995C>T | p.Ala332Val | missense_variant | Exon 8 of 12 | XP_024302432.1 | ||
SSC4D | XM_017011750.2 | c.401C>T | p.Ala134Val | missense_variant | Exon 4 of 8 | XP_016867239.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000920 AC: 14AN: 152222Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000597 AC: 15AN: 251364Hom.: 0 AF XY: 0.0000589 AC XY: 8AN XY: 135862
GnomAD4 exome AF: 0.0000629 AC: 92AN: 1461586Hom.: 0 Cov.: 31 AF XY: 0.0000756 AC XY: 55AN XY: 727074
GnomAD4 genome AF: 0.0000920 AC: 14AN: 152222Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 8AN XY: 74376
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.908C>T (p.A303V) alteration is located in exon 7 (coding exon 6) of the SSC4D gene. This alteration results from a C to T substitution at nucleotide position 908, causing the alanine (A) at amino acid position 303 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at