NM_000268.4(NF2):c.246G>A (p.Leu82=) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Apr 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000563920.1

Allele description [Variation Report for NM_000268.4(NF2):c.246G>A (p.Leu82=)]

NM_000268.4(NF2):c.246G>A (p.Leu82=)

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.246G>A (p.Leu82=)
HGVS:
  • NC_000022.11:g.29639095G>A
  • NG_009057.1:g.40540G>A
  • NM_000268.3:c.246G>A
  • NM_000268.4:c.246G>AMANE SELECT
  • NM_016418.5:c.246G>A
  • NM_181825.3:c.246G>A
  • NM_181828.3:c.120G>A
  • NM_181829.3:c.240+2219G>A
  • NM_181830.3:c.115-3107G>A
  • NM_181831.3:c.115-3107G>A
  • NM_181832.3:c.246G>A
  • NM_181833.3:c.246G>A
  • NP_000259.1:p.Leu82=
  • NP_000259.1:p.Leu82=
  • NP_057502.2:p.Leu82=
  • NP_861546.1:p.Leu82=
  • NP_861966.1:p.Leu40=
  • NP_861970.1:p.Leu82=
  • NP_861971.1:p.Leu82=
  • LRG_511t1:c.246G>A
  • LRG_511t2:c.246G>A
  • LRG_511:g.40540G>A
  • LRG_511p1:p.Leu82=
  • LRG_511p2:p.Leu82=
  • NC_000022.10:g.30035084G>A
  • NR_156186.2:n.728G>A
Links:
dbSNP: rs371270318
NCBI 1000 Genomes Browser:
rs371270318
Molecular consequence:
  • NM_181829.3:c.240+2219G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181830.3:c.115-3107G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_181831.3:c.115-3107G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.728G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000268.3:c.246G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000268.4:c.246G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016418.5:c.246G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181825.3:c.246G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181828.3:c.120G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181832.3:c.246G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181833.3:c.246G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MedGen: C0027672

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000674128Ambry Geneticscriteria provided, single submitter
Likely benign
(Apr 4, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000674128.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

Synonymous alterations with insufficient evidence to classify as benign

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Oct 30, 2021

Support Center