chr7-36396285-G-A
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP3BP4_StrongBP6_ModerateBS2
The NM_018685.5(ANLN):c.38G>A(p.Arg13His) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000168 in 1,605,254 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 Likely benign (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. R13C) has been classified as Uncertain significance.
Frequency
Consequence
NM_018685.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANLN | NM_018685.5 | c.38G>A | p.Arg13His | missense_variant | 2/24 | ENST00000265748.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANLN | ENST00000265748.7 | c.38G>A | p.Arg13His | missense_variant | 2/24 | 1 | NM_018685.5 | P2 | |
ANLN | ENST00000396068.6 | c.38G>A | p.Arg13His | missense_variant | 2/23 | 1 | A2 | ||
ANLN | ENST00000418118.1 | c.-29G>A | 5_prime_UTR_variant | 2/2 | 3 | ||||
ANLN | ENST00000424865.1 | c.-29G>A | 5_prime_UTR_variant | 2/4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.000296 AC: 45AN: 152142Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000341 AC: 85AN: 249624Hom.: 0 AF XY: 0.000304 AC XY: 41AN XY: 134910
GnomAD4 exome AF: 0.000154 AC: 224AN: 1452994Hom.: 2 Cov.: 30 AF XY: 0.000163 AC XY: 118AN XY: 722616
GnomAD4 genome AF: 0.000296 AC: 45AN: 152260Hom.: 0 Cov.: 32 AF XY: 0.000349 AC XY: 26AN XY: 74466
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 14, 2023 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at