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NM_001005743.2(NUMB):c.1888C>T (p.Arg630Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 2023
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:
RCV004295648.1

Allele description [Variation Report for NM_001005743.2(NUMB):c.1888C>T (p.Arg630Cys)]

NM_001005743.2(NUMB):c.1888C>T (p.Arg630Cys)

Gene:
NUMB:NUMB endocytic adaptor protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q24.2
Genomic location:
Preferred name:
NM_001005743.2(NUMB):c.1888C>T (p.Arg630Cys)
HGVS:
  • NC_000014.9:g.73276646G>A
  • NG_029061.2:g.186935C>T
  • NG_129440.1:g.219G>A
  • NM_001005743.2:c.1888C>TMANE SELECT
  • NM_001005744.2:c.1744C>T
  • NM_001005745.2:c.1711C>T
  • NM_001320114.2:c.1744C>T
  • NM_003744.6:c.1855C>T
  • NP_001005743.1:p.Arg630Cys
  • NP_001005744.1:p.Arg582Cys
  • NP_001005745.1:p.Arg571Cys
  • NP_001307043.1:p.Arg582Cys
  • NP_003735.3:p.Arg619Cys
  • NC_000014.8:g.73743354G>A
  • NM_001005743.1:c.1888C>T
Protein change:
R571C
Molecular consequence:
  • NM_001005743.2:c.1888C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005744.2:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005745.2:c.1711C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320114.2:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003744.6:c.1855C>T - 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
SCV003941597Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 2023) 		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, SCV003941597.2

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

Description

The c.1888C>T (p.R630C) alteration is located in exon 13 (coding exon 10) of the NUMB gene. This alteration results from a C to T substitution at nucleotide position 1888, causing the arginine (R) at amino acid position 630 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 26, 2024