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NM_170744.5(UNC5B):c.2222A>G (p.Glu741Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 16, 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:
RCV004481980.1

Allele description [Variation Report for NM_170744.5(UNC5B):c.2222A>G (p.Glu741Gly)]

NM_170744.5(UNC5B):c.2222A>G (p.Glu741Gly)

Gene:
UNC5B:unc-5 netrin receptor B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_170744.5(UNC5B):c.2222A>G (p.Glu741Gly)
HGVS:
  • NC_000010.11:g.71295857A>G
  • NG_119747.1:g.498A>G
  • NM_001244889.2:c.2189A>G
  • NM_170744.5:c.2222A>GMANE SELECT
  • NP_001231818.1:p.Glu730Gly
  • NP_734465.2:p.Glu741Gly
  • NC_000010.10:g.73055614A>G
  • NM_170744.4:c.2222A>G
Protein change:
E730G
Molecular consequence:
  • NM_001244889.2:c.2189A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_170744.5:c.2222A>G - 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
SCV004976816Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 16, 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, SCV004976816.1

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

Description

The c.2222A>G (p.E741G) alteration is located in exon 14 (coding exon 14) of the UNC5B gene. This alteration results from a A to G substitution at nucleotide position 2222, causing the glutamic acid (E) at amino acid position 741 to be replaced by a glycine (G). 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: May 7, 2024