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NM_020909.4(EPB41L5):c.1769A>G (p.Asn590Ser) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 7, 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:
RCV004385314.1

Allele description [Variation Report for NM_020909.4(EPB41L5):c.1769A>G (p.Asn590Ser)]

NM_020909.4(EPB41L5):c.1769A>G (p.Asn590Ser)

Gene:
EPB41L5:erythrocyte membrane protein band 4.1 like 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q14.2
Genomic location:
Preferred name:
NM_020909.4(EPB41L5):c.1769A>G (p.Asn590Ser)
HGVS:
  • NC_000002.12:g.120146265A>G
  • NM_001184937.2:c.1769A>G
  • NM_001330310.2:c.1769A>G
  • NM_020909.4:c.1769A>GMANE SELECT
  • NP_001171866.1:p.Asn590Ser
  • NP_001317239.1:p.Asn590Ser
  • NP_065960.2:p.Asn590Ser
  • NC_000002.11:g.120903841A>G
  • NM_020909.3:c.1769A>G
Protein change:
N590S
Molecular consequence:
  • NM_001184937.2:c.1769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330310.2:c.1769A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020909.4:c.1769A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004865619Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jan 7, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV004865619.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024