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NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV004210151.1

Allele description [Variation Report for NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)]

NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)

Gene:
EXOC2:exocyst complex component 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p25.3
Genomic location:
Preferred name:
NM_018303.6(EXOC2):c.2214C>G (p.Phe738Leu)
HGVS:
  • NC_000006.12:g.549199G>C
  • NG_047166.1:g.148943C>G
  • NM_018303.6:c.2214C>GMANE SELECT
  • NP_060773.3:p.Phe738Leu
  • NC_000006.11:g.549199G>C
  • NM_018303.4:c.2214C>G
  • NR_073064.2:n.2540C>G
Protein change:
F738L
Molecular consequence:
  • NM_018303.6:c.2214C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_073064.2:n.2540C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003709046Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2021) 		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, SCV003709046.2

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

Description

The c.2214C>G (p.F738L) alteration is located in exon 22 (coding exon 21) of the EXOC2 gene. This alteration results from a C to G substitution at nucleotide position 2214, causing the phenylalanine (F) at amino acid position 738 to be replaced by a leucine (L). 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 3, 2024