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NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 24, 2024
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:
RCV003490413.2

Allele description [Variation Report for NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=)]

NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=)

Genes:
LOC126807458:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:96116076-96117275 [Gene]
ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q15
Genomic location:
Preferred name:
NM_001040458.3(ERAP1):c.2542C>T (p.Leu848=)
HGVS:
  • NC_000005.10:g.96781104G>A
  • NG_027839.2:g.159880C>T
  • NG_083772.1:g.833G>A
  • NM_001040458.3:c.2542C>TMANE SELECT
  • NM_001198541.3:c.2542C>T
  • NM_001349244.2:c.2542C>T
  • NM_016442.5:c.2542C>T
  • NP_001035548.1:p.Leu848=
  • NP_001185470.1:p.Leu848=
  • NP_001336173.1:p.Leu848=
  • NP_057526.3:p.Leu848=
  • NC_000005.9:g.96116808G>A
Molecular consequence:
  • NM_001040458.3:c.2542C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001198541.3:c.2542C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001349244.2:c.2542C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016442.5:c.2542C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
18

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004234131Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jan 24, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno18not providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan, SCV004234131.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided18not providednot providedclinical testing PubMed (1)

Description

This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied by a panel of primary immunodeficiencies. Number of patients: 18. Only high quality variants are reported.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot provided18not providednot providednot provided

Last Updated: Jun 23, 2024