NM_001130700.2(IPCEF1):c.1312A>G (p.Ile438Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 21, 2022
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:
RCV004206371.1

Allele description [Variation Report for NM_001130700.2(IPCEF1):c.1312A>G (p.Ile438Val)]

NM_001130700.2(IPCEF1):c.1312A>G (p.Ile438Val)

Genes:
IPCEF1:interaction protein for cytohesin exchange factors 1 [Gene - OMIM - HGNC]
OPRM1:opioid receptor mu 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q25.2
Genomic location:
Preferred name:
NM_001130700.2(IPCEF1):c.1312A>G (p.Ile438Val)
HGVS:
  • NC_000006.12:g.154159833T>C
  • NG_021208.2:g.154333T>C
  • NM_001008503.3:c.1164+68361T>C
  • NM_001130699.2:c.1312A>G
  • NM_001130700.2:c.1312A>GMANE SELECT
  • NM_001394799.1:c.1312A>G
  • NM_001394800.1:c.1312A>G
  • NM_001394801.1:c.1312A>G
  • NM_001394802.1:c.1309A>G
  • NM_015553.3:c.1309A>G
  • NP_001124171.1:p.Ile438Val
  • NP_001124172.1:p.Ile438Val
  • NP_001381728.1:p.Ile438Val
  • NP_001381729.1:p.Ile438Val
  • NP_001381730.1:p.Ile438Val
  • NP_001381731.1:p.Ile437Val
  • NP_056368.1:p.Ile437Val
  • LRG_1007t1:c.1164+68361T>C
  • LRG_1007:g.154333T>C
  • NC_000006.11:g.154480968T>C
  • NM_001130699.1:c.1312A>G
Protein change:
I437V
Molecular consequence:
  • NM_001008503.3:c.1164+68361T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001130699.2:c.1312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001130700.2:c.1312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394799.1:c.1312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394800.1:c.1312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394801.1:c.1312A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001394802.1:c.1309A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015553.3:c.1309A>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
SCV003696464Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 21, 2022) 		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, SCV003696464.2

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

Description

The c.1312A>G (p.I438V) alteration is located in exon 13 (coding exon 10) of the IPCEF1 gene. This alteration results from a A to G substitution at nucleotide position 1312, causing the isoleucine (I) at amino acid position 438 to be replaced by a valine (V). 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: Nov 10, 2024