7-76397677-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_080744.2(SSC4D):c.709G>C(p.Ala237Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. 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 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SSC4D | NM_080744.2 | c.709G>C | p.Ala237Pro | missense_variant | Exon 6 of 11 | ENST00000275560.4 | NP_542782.1 | |
SSC4D | XM_024446664.2 | c.796G>C | p.Ala266Pro | missense_variant | Exon 7 of 12 | XP_024302432.1 | ||
SSC4D | XM_017011750.2 | c.202G>C | p.Ala68Pro | missense_variant | Exon 3 of 8 | XP_016867239.1 | ||
ZP3 | NM_007155.6 | c.-187C>G | 5_prime_UTR_variant | Exon 1 of 9 | NP_009086.4 |
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.709G>C (p.A237P) alteration is located in exon 6 (coding exon 5) of the SSC4D gene. This alteration results from a G to C substitution at nucleotide position 709, causing the alanine (A) at amino acid position 237 to be replaced by a proline (P). 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
Publications
No publications associated with this variant yet.