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NM_152424.4(AMER1):c.1180G>T (p.Glu394Ter) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 12, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001941964.6

Allele description [Variation Report for NM_152424.4(AMER1):c.1180G>T (p.Glu394Ter)]

NM_152424.4(AMER1):c.1180G>T (p.Glu394Ter)

Gene:
AMER1:APC membrane recruitment protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq11.2
Genomic location:
Preferred name:
NM_152424.4(AMER1):c.1180G>T (p.Glu394Ter)
HGVS:
  • NC_000023.11:g.64192107C>A
  • NG_021345.1:g.18638G>T
  • NM_152424.4:c.1180G>TMANE SELECT
  • NP_689637.3:p.Glu394Ter
  • LRG_1259t1:c.1180G>T
  • LRG_1259:g.18638G>T
  • LRG_1259p1:p.Glu394Ter
  • NC_000023.10:g.63411987C>A
Protein change:
E394*
Links:
dbSNP: rs1930260782
NCBI 1000 Genomes Browser:
rs1930260782
Molecular consequence:
  • NM_152424.4:c.1180G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002233128Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 12, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002233128.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the AMER1 protein in which other variant(s) (p.Arg497*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 1454631). This variant has not been reported in the literature in individuals affected with AMER1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu394*) in the AMER1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 742 amino acid(s) of the AMER1 protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024