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NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jul 27, 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:
RCV001729552.3

Allele description [Variation Report for NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)]

NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)

Gene:
ABCG8:ATP binding cassette subfamily G member 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
HGVS:
  • NC_000002.12:g.43877589C>T
  • NG_008884.2:g.50648C>T
  • NM_001357321.2:c.1782C>T
  • NM_022437.3:c.1785C>TMANE SELECT
  • NP_001344250.1:p.Phe594=
  • NP_071882.1:p.Phe595=
  • LRG_1182t1:c.1785C>T
  • LRG_1182:g.50648C>T
  • LRG_1182p1:p.Phe595=
  • NC_000002.11:g.44104728C>T
  • NG_008884.1:g.43626C>T
  • NM_022437.2:c.1785C>T
Links:
dbSNP: rs139677898
NCBI 1000 Genomes Browser:
rs139677898
Molecular consequence:
  • NM_001357321.2:c.1782C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022437.3:c.1785C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001978783Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria provided
Benigngermlineclinical testing

SCV005202414Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(Jul 27, 2024)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Clinical Genetics, Academic Medical Center - VKGL Data-share Consensus, SCV001978783.1

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

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV005202414.1

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

Last Updated: Sep 29, 2024