7-76397715-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_080744.2(SSC4D):āc.671C>Gā(p.Ala224Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000753 in 1,461,000 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict 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 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSC4D | NM_080744.2 | c.671C>G | p.Ala224Gly | missense_variant | Exon 6 of 11 | ENST00000275560.4 | NP_542782.1 | |
SSC4D | XM_024446664.2 | c.758C>G | p.Ala253Gly | missense_variant | Exon 7 of 12 | XP_024302432.1 | ||
SSC4D | XM_017011750.2 | c.164C>G | p.Ala55Gly | missense_variant | Exon 3 of 8 | XP_016867239.1 | ||
ZP3 | NM_007155.6 | c.-149G>C | 5_prime_UTR_variant | Exon 1 of 9 | NP_009086.4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.0000122 AC: 3AN: 246512Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134098
GnomAD4 exome AF: 0.00000753 AC: 11AN: 1461000Hom.: 0 Cov.: 35 AF XY: 0.00000825 AC XY: 6AN XY: 726866
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.671C>G (p.A224G) alteration is located in exon 6 (coding exon 5) of the SSC4D gene. This alteration results from a C to G substitution at nucleotide position 671, causing the alanine (A) at amino acid position 224 to be replaced by a glycine (G). 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