7-36396375-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 1P and 10B. PP3BP4_StrongBP6_ModerateBS2
The NM_018685.5(ANLN):c.128C>T(p.Pro43Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000899 in 1,601,388 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P43S) 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.128C>T | p.Pro43Leu | missense_variant | 2/24 | ENST00000265748.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANLN | ENST00000265748.7 | c.128C>T | p.Pro43Leu | missense_variant | 2/24 | 1 | NM_018685.5 | P2 | |
ANLN | ENST00000396068.6 | c.128C>T | p.Pro43Leu | missense_variant | 2/23 | 1 | A2 | ||
ANLN | ENST00000424865.1 | c.62C>T | p.Pro21Leu | missense_variant | 2/4 | 3 | |||
ANLN | ENST00000418118.1 | c.62C>T | p.Pro21Leu | missense_variant | 2/2 | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152190Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000212 AC: 53AN: 250336Hom.: 0 AF XY: 0.000251 AC XY: 34AN XY: 135322
GnomAD4 exome AF: 0.0000925 AC: 134AN: 1449080Hom.: 0 Cov.: 30 AF XY: 0.000131 AC XY: 94AN XY: 719580
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152308Hom.: 0 Cov.: 32 AF XY: 0.0000805 AC XY: 6AN XY: 74488
ClinVar
Submissions by phenotype
not provided Benign:1
Likely benign, criteria provided, single submitter | clinical testing | Invitae | Jun 01, 2022 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at