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NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser) AND not provided

Germline classification:
Likely benign (2 submissions)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001703349.2

Allele description [Variation Report for NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)]

NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)

Gene:
ACE2:angiotensin converting enzyme 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser)
HGVS:
  • NC_000023.11:g.15570351C>A
  • NG_012575.2:g.36808G>T
  • NM_001371415.1:c.1840G>TMANE SELECT
  • NM_001386259.1:c.1840G>T
  • NM_001386260.1:c.1664+1850G>T
  • NM_001388452.1:c.802G>T
  • NM_001389402.1:c.1664+1850G>T
  • NM_021804.3:c.1840G>T
  • NP_001358344.1:p.Ala614Ser
  • NP_001373188.1:p.Ala614Ser
  • NP_001375381.1:p.Ala268Ser
  • NP_068576.1:p.Ala614Ser
  • NC_000023.10:g.15588474C>A
  • NG_012575.1:g.36719G>T
Protein change:
A268S
Links:
dbSNP: rs201715513
NCBI 1000 Genomes Browser:
rs201715513
Molecular consequence:
  • NM_001386260.1:c.1664+1850G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001389402.1:c.1664+1850G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001371415.1:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001386259.1:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388452.1:c.802G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021804.3:c.1840G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001928188Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

SCV001971557Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Likely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001928188.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001971557.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023