4-38905561-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_138389.4(FAM114A1):c.476C>T(p.Thr159Ile) variant causes a missense change. The variant allele was found at a frequency of 0.0000669 in 1,614,104 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_138389.4 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: 0.000374 AC: 57AN: 152222Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.0000358 AC: 9AN: 251394Hom.: 0 AF XY: 0.0000442 AC XY: 6AN XY: 135860
GnomAD4 exome AF: 0.0000349 AC: 51AN: 1461882Hom.: 0 Cov.: 31 AF XY: 0.0000330 AC XY: 24AN XY: 727244
GnomAD4 genome AF: 0.000374 AC: 57AN: 152222Hom.: 2 Cov.: 32 AF XY: 0.000282 AC XY: 21AN XY: 74362
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.476C>T (p.T159I) alteration is located in exon 5 (coding exon 3) of the FAM114A1 gene. This alteration results from a C to T substitution at nucleotide position 476, causing the threonine (T) at amino acid position 159 to be replaced by an isoleucine (I). 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