chr11-72841559-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_014824.3(FCHSD2):c.1951G>A(p.Ala651Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000137 in 1,609,148 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 (★).
Frequency
Consequence
NM_014824.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000659 AC: 1AN: 151818Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000413 AC: 10AN: 242328Hom.: 0 AF XY: 0.0000611 AC XY: 8AN XY: 130974
GnomAD4 exome AF: 0.0000144 AC: 21AN: 1457330Hom.: 0 Cov.: 33 AF XY: 0.0000179 AC XY: 13AN XY: 724606
GnomAD4 genome AF: 0.00000659 AC: 1AN: 151818Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74140
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1951G>A (p.A651T) alteration is located in exon 18 (coding exon 18) of the FCHSD2 gene. This alteration results from a G to A substitution at nucleotide position 1951, causing the alanine (A) at amino acid position 651 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