chr14-104938950-C-T
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6_ModerateBS2
The NM_138420.4(AHNAK2):c.16501G>A(p.Val5501Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00323 in 1,613,302 control chromosomes in the GnomAD database, including 11 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_138420.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AHNAK2 | NM_138420.4 | c.16501G>A | p.Val5501Met | missense_variant | 7/7 | ENST00000333244.6 | |
AHNAK2 | NM_001350929.2 | c.16201G>A | p.Val5401Met | missense_variant | 7/7 | ||
AHNAK2 | XM_024449463.2 | c.16201G>A | p.Val5401Met | missense_variant | 7/7 | ||
AHNAK2 | XM_047430904.1 | c.16201G>A | p.Val5401Met | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHNAK2 | ENST00000333244.6 | c.16501G>A | p.Val5501Met | missense_variant | 7/7 | 5 | NM_138420.4 | P1 | |
AHNAK2 | ENST00000557457.1 | c.1495G>A | p.Val499Met | missense_variant | 3/3 | 1 | |||
AHNAK2 | ENST00000555122.1 | n.16629G>A | non_coding_transcript_exon_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.00193 AC: 294AN: 152100Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00179 AC: 443AN: 248144Hom.: 1 AF XY: 0.00175 AC XY: 236AN XY: 134784
GnomAD4 exome AF: 0.00336 AC: 4916AN: 1461084Hom.: 11 Cov.: 74 AF XY: 0.00328 AC XY: 2381AN XY: 726750
GnomAD4 genome AF: 0.00193 AC: 294AN: 152218Hom.: 0 Cov.: 32 AF XY: 0.00165 AC XY: 123AN XY: 74430
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | CeGaT Center for Human Genetics Tuebingen | Mar 01, 2023 | AHNAK2: BS1, BS2 - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at