chr1-10461512-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_004401.3(DFFA):c.974G>A(p.Arg325Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00147 in 1,614,002 control chromosomes in the GnomAD database, including 44 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_004401.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DFFA | NM_004401.3 | c.974G>A | p.Arg325Gln | missense_variant | Exon 6 of 6 | ENST00000377038.8 | NP_004392.1 | |
DFFA | NM_213566.2 | c.*1522G>A | 3_prime_UTR_variant | Exon 5 of 5 | NP_998731.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00164 AC: 249AN: 152162Hom.: 9 Cov.: 32
GnomAD3 exomes AF: 0.00270 AC: 679AN: 251104Hom.: 8 AF XY: 0.00246 AC XY: 334AN XY: 135724
GnomAD4 exome AF: 0.00145 AC: 2114AN: 1461722Hom.: 34 Cov.: 31 AF XY: 0.00150 AC XY: 1089AN XY: 727148
GnomAD4 genome AF: 0.00167 AC: 254AN: 152280Hom.: 10 Cov.: 32 AF XY: 0.00177 AC XY: 132AN XY: 74460
ClinVar
Submissions by phenotype
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at