X-112779403-A-G

Variant summary

Our verdict is Benign. Variant got -11 ACMG points: 0P and 11B. BP4_StrongBP6_ModerateBP7BS2

The NM_001113490.2(AMOT):ā€‹c.2751T>Cā€‹(p.Ala917Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000316 in 949,781 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā˜…).

Frequency

Genomes: not found (cov: 22)
Exomes š‘“: 0.0000032 ( 0 hom. 3 hem. )

Consequence

AMOT
NM_001113490.2 synonymous

Scores

2

Clinical Significance

Likely benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.234
Variant links:
Genes affected
AMOT (HGNC:17810): (angiomotin) This gene belongs to the motin family of angiostatin binding proteins characterized by conserved coiled-coil domains and C-terminal PDZ binding motifs. The encoded protein is expressed predominantly in endothelial cells of capillaries as well as larger vessels of the placenta where it may mediate the inhibitory effect of angiostatin on tube formation and the migration of endothelial cells toward growth factors during the formation of new blood vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Genome browser will be placed here

ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -11 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.87).
BP6
Variant X-112779403-A-G is Benign according to our data. Variant chrX-112779403-A-G is described in ClinVar as [Likely_benign]. Clinvar id is 2661223.Status of the report is criteria_provided_single_submitter, 1 stars.
BP7
Synonymous conserved (PhyloP=-0.234 with no splicing effect.
BS2
High Hemizygotes in GnomAdExome4 at 3 gene

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
AMOTNM_001113490.2 linkc.2751T>C p.Ala917Ala synonymous_variant Exon 13 of 14 ENST00000371959.9 NP_001106962.1 Q4VCS5-1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
AMOTENST00000371959.9 linkc.2751T>C p.Ala917Ala synonymous_variant Exon 13 of 14 1 NM_001113490.2 ENSP00000361027.3 Q4VCS5-1
AMOTENST00000371962.5 linkc.2055T>C p.Ala685Ala synonymous_variant Exon 10 of 11 1 ENSP00000361030.1 E7ERM3
AMOTENST00000304758.5 linkc.1524T>C p.Ala508Ala synonymous_variant Exon 11 of 12 1 ENSP00000305557.1 Q4VCS5-2

Frequencies

GnomAD3 genomes
Cov.:
22
GnomAD4 exome
AF:
0.00000316
AC:
3
AN:
949781
Hom.:
0
Cov.:
22
AF XY:
0.0000103
AC XY:
3
AN XY:
290651
show subpopulations
Gnomad4 AFR exome
AF:
0.00
Gnomad4 AMR exome
AF:
0.00
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.00
Gnomad4 SAS exome
AF:
0.0000205
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.00000138
Gnomad4 OTH exome
AF:
0.0000245
GnomAD4 genome
Cov.:
22

ClinVar

Significance: Likely benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
May 01, 2023
CeGaT Center for Human Genetics Tuebingen
Significance: Likely benign
Review Status: criteria provided, single submitter
Collection Method: clinical testing

AMOT: PM2:Supporting, BP4, BP7 -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.87
CADD
Benign
1.1
DANN
Benign
0.65

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs760467274; hg19: chrX-112022631; API