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NM_004736.4(XPR1):c.317C>T (p.Thr106Met) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 31, 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:
RCV003365070.2

Allele description [Variation Report for NM_004736.4(XPR1):c.317C>T (p.Thr106Met)]

NM_004736.4(XPR1):c.317C>T (p.Thr106Met)

Gene:
XPR1:xenotropic and polytropic retrovirus receptor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q25.3
Genomic location:
Preferred name:
NM_004736.4(XPR1):c.317C>T (p.Thr106Met)
HGVS:
  • NC_000001.11:g.180803481C>T
  • NG_050964.1:g.176472C>T
  • NM_001135669.2:c.317C>T
  • NM_001328662.2:c.317C>T
  • NM_004736.4:c.317C>TMANE SELECT
  • NP_001129141.1:p.Thr106Met
  • NP_001315591.1:p.Thr106Met
  • NP_004727.2:p.Thr106Met
  • NC_000001.10:g.180772617C>T
  • NM_004736.3:c.317C>T
  • NR_137330.2:n.497C>T
Protein change:
T106M
Molecular consequence:
  • NM_001135669.2:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001328662.2:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004736.4:c.317C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_137330.2:n.497C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004082180Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 31, 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, SCV004082180.2

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

Description

The c.317C>T (p.T106M) alteration is located in exon 4 (coding exon 4) of the XPR1 gene. This alteration results from a C to T substitution at nucleotide position 317, causing the threonine (T) at amino acid position 106 to be replaced by a methionine (M). 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 1, 2024