rs201127689
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_138420.4(AHNAK2):c.6509A>T(p.Lys2170Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. K2170R) has been classified as Benign.
Frequency
Consequence
NM_138420.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AHNAK2 | NM_138420.4 | c.6509A>T | p.Lys2170Met | missense_variant | 7/7 | ENST00000333244.6 | |
AHNAK2 | NM_001350929.2 | c.6209A>T | p.Lys2070Met | missense_variant | 7/7 | ||
AHNAK2 | XM_024449463.2 | c.6209A>T | p.Lys2070Met | missense_variant | 7/7 | ||
AHNAK2 | XM_047430904.1 | c.6209A>T | p.Lys2070Met | missense_variant | 7/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AHNAK2 | ENST00000333244.6 | c.6509A>T | p.Lys2170Met | missense_variant | 7/7 | 5 | NM_138420.4 | P1 | |
AHNAK2 | ENST00000557457.1 | c.-221+4939A>T | intron_variant | 1 | |||||
AHNAK2 | ENST00000555122.1 | n.6637A>T | non_coding_transcript_exon_variant | 6/6 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.0000107 AC: 1AN: 93190Hom.: 0 Cov.: 19
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000237 AC: 28AN: 1179134Hom.: 1 Cov.: 104 AF XY: 0.0000272 AC XY: 16AN XY: 588122
GnomAD4 genome ? AF: 0.0000107 AC: 1AN: 93190Hom.: 0 Cov.: 19 AF XY: 0.0000219 AC XY: 1AN XY: 45630
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at