3-27376828-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_001321103.2(SLC4A7):āc.3716G>Cā(p.Ser1239Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000161 in 1,432,594 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_001321103.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000409 AC: 1AN: 244578Hom.: 0 AF XY: 0.00000753 AC XY: 1AN XY: 132726
GnomAD4 exome AF: 0.0000161 AC: 23AN: 1432594Hom.: 0 Cov.: 25 AF XY: 0.0000112 AC XY: 8AN XY: 713646
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 27, 2024 | The c.3581G>C (p.S1194T) alteration is located in exon 25 (coding exon 25) of the SLC4A7 gene. This alteration results from a G to C substitution at nucleotide position 3581, causing the serine (S) at amino acid position 1194 to be replaced by a threonine (T). 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