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NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) AND not provided

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Apr 1, 2019
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:
RCV001551376.11

Allele description [Variation Report for NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)]

NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)

Genes:
ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=)
HGVS:
  • NC_000002.12:g.43823986C>T
  • NG_008883.1:g.19834G>A
  • NG_053008.1:g.54948C>T
  • NM_001348912.2:c.*16-3400C>T
  • NM_001348913.2:c.*16-3400C>T
  • NM_022436.3:c.1251G>AMANE SELECT
  • NP_071881.1:p.Gln417=
  • LRG_1181t1:c.1251G>A
  • LRG_1181:g.19834G>A
  • LRG_1181p1:p.Gln417=
  • NC_000002.11:g.44051125C>T
  • NM_022436.2:c.1251G>A
Links:
dbSNP: rs146801512
NCBI 1000 Genomes Browser:
rs146801512
Molecular consequence:
  • NM_001348912.2:c.*16-3400C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348913.2:c.*16-3400C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022436.3:c.1251G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001771869GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely benign
(Apr 1, 2019)
germlineclinical testing

Citation Link,

SCV001974544Clinical 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 GeneDx, SCV001771869.1

#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, SCV001974544.1

#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: Jul 15, 2024