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NM_000268.4(NF2):c.12C>T (p.Ala4=) AND not specified

Germline classification:
Likely benign (3 submissions)
Last evaluated:
Jan 20, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000246364.8

Allele description [Variation Report for NM_000268.4(NF2):c.12C>T (p.Ala4=)]

NM_000268.4(NF2):c.12C>T (p.Ala4=)

Gene:
NF2:NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_000268.4(NF2):c.12C>T (p.Ala4=)
HGVS:
  • NC_000022.11:g.29604010C>T
  • NG_009057.1:g.5455C>T
  • NM_000268.4:c.12C>TMANE SELECT
  • NM_016418.5:c.12C>T
  • NM_181825.3:c.12C>T
  • NM_181828.3:c.12C>T
  • NM_181829.3:c.12C>T
  • NM_181830.3:c.12C>T
  • NM_181831.3:c.12C>T
  • NM_181832.3:c.12C>T
  • NM_181833.3:c.12C>T
  • NP_000259.1:p.Ala4=
  • NP_000259.1:p.Ala4=
  • NP_057502.2:p.Ala4=
  • NP_861546.1:p.Ala4=
  • NP_861966.1:p.Ala4=
  • NP_861967.1:p.Ala4=
  • NP_861968.1:p.Ala4=
  • NP_861969.1:p.Ala4=
  • NP_861970.1:p.Ala4=
  • NP_861971.1:p.Ala4=
  • LRG_511t1:c.12C>T
  • LRG_511t2:c.12C>T
  • LRG_511:g.5455C>T
  • LRG_511p1:p.Ala4=
  • LRG_511p2:p.Ala4=
  • NC_000022.10:g.29999999C>T
  • NM_000268.3:c.12C>T
  • NM_000268.4:c.12C>T
  • NM_181832.2:c.12C>T
  • NR_156186.2:n.378C>T
Links:
dbSNP: rs144477078
NCBI 1000 Genomes Browser:
rs144477078
Molecular consequence:
  • NR_156186.2:n.378C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000268.4:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016418.5:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181825.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181828.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181829.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181830.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181831.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181832.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181833.3:c.12C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000316742PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000714119GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(Jan 20, 2018) 		germlineclinical testing

Citation Link,

SCV003839768Genetic Services Laboratory, University of Chicago
no assertion criteria provided
Likely benign
(May 12, 2022) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenonot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV000316742.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV000714119.1

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Genetic Services Laboratory, University of Chicago, SCV003839768.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenonot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024