7-76393443-T-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_080744.2(SSC4D):āc.1295A>Gā(p.Asn432Ser) variant causes a missense change. The variant allele was found at a frequency of 0.00000197 in 1,521,438 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 Uncertain significance (ā ).
Frequency
Consequence
NM_080744.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSC4D | NM_080744.2 | c.1295A>G | p.Asn432Ser | missense_variant | Exon 9 of 11 | ENST00000275560.4 | NP_542782.1 | |
SSC4D | XM_024446664.2 | c.1382A>G | p.Asn461Ser | missense_variant | Exon 10 of 12 | XP_024302432.1 | ||
SSC4D | XM_017011750.2 | c.788A>G | p.Asn263Ser | missense_variant | Exon 6 of 8 | XP_016867239.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000668 AC: 1AN: 149738Hom.: 0 AF XY: 0.0000118 AC XY: 1AN XY: 85078
GnomAD4 exome AF: 0.00000146 AC: 2AN: 1369394Hom.: 0 Cov.: 30 AF XY: 0.00000295 AC XY: 2AN XY: 678552
GnomAD4 genome AF: 0.00000658 AC: 1AN: 152044Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74270
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1295A>G (p.N432S) alteration is located in exon 9 (coding exon 8) of the SSC4D gene. This alteration results from a A to G substitution at nucleotide position 1295, causing the asparagine (N) at amino acid position 432 to be replaced by a serine (S). 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