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NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 20, 2015
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:
RCV000318703.4

Allele description [Variation Report for NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)]

NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)

Gene:
ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
Other names:
p.Ser701Pro
HGVS:
  • NC_000002.12:g.168964283A>G
  • NG_007374.2:g.72114T>C
  • NM_003742.4:c.2101T>CMANE SELECT
  • NP_003733.2:p.Ser701Pro
  • LRG_1199t1:c.2101T>C
  • LRG_1199:g.72114T>C
  • LRG_1199p1:p.Ser701Pro
  • NC_000002.11:g.169820793A>G
  • NG_007374.1:g.72041T>C
  • NM_003742.2:c.2101T>C
Protein change:
S701P
Links:
dbSNP: rs150572999
NCBI 1000 Genomes Browser:
rs150572999
Molecular consequence:
  • NM_003742.4:c.2101T>C - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000332912Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)
Benign
(Jul 20, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000332912.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: May 19, 2024