chr1-108837569-A-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_152763.5(AKNAD1):āc.1517T>Gā(p.Phe506Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000126 in 1,613,984 control chromosomes in the GnomAD database, including 1 homozygotes. 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 (ā ).
Frequency
Consequence
NM_152763.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKNAD1 | NM_152763.5 | c.1517T>G | p.Phe506Cys | missense_variant | 7/16 | ENST00000370001.8 | |
AKNAD1 | NR_049760.2 | n.1939T>G | non_coding_transcript_exon_variant | 8/14 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKNAD1 | ENST00000370001.8 | c.1517T>G | p.Phe506Cys | missense_variant | 7/16 | 1 | NM_152763.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152178Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000955 AC: 24AN: 251406Hom.: 1 AF XY: 0.000125 AC XY: 17AN XY: 135874
GnomAD4 exome AF: 0.000131 AC: 192AN: 1461806Hom.: 1 Cov.: 31 AF XY: 0.000124 AC XY: 90AN XY: 727198
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152178Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 26, 2022 | The c.1517T>G (p.F506C) alteration is located in exon 7 (coding exon 6) of the AKNAD1 gene. This alteration results from a T to G substitution at nucleotide position 1517, causing the phenylalanine (F) at amino acid position 506 to be replaced by a cysteine (C). 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