NM_000268.4(NF2):c.1470G>A (p.Pro490=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 31, 2019
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:
RCV002392778.9

Allele description [Variation Report for NM_000268.4(NF2):c.1470G>A (p.Pro490=)]

NM_000268.4(NF2):c.1470G>A (p.Pro490=)

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.1470G>A (p.Pro490=)
HGVS:
  • NC_000022.11:g.29678219G>A
  • NG_009057.1:g.79664G>A
  • NM_000268.4:c.1470G>AMANE SELECT
  • NM_016418.5:c.1470G>A
  • NM_181825.3:c.1470G>A
  • NM_181828.3:c.1344G>A
  • NM_181829.3:c.1347G>A
  • NM_181830.3:c.1221G>A
  • NM_181831.3:c.1221G>A
  • NM_181832.3:c.1470G>A
  • NM_181833.3:c.448-16533G>A
  • NP_000259.1:p.Pro490=
  • NP_000259.1:p.Pro490=
  • NP_057502.2:p.Pro490=
  • NP_861546.1:p.Pro490=
  • NP_861966.1:p.Pro448=
  • NP_861967.1:p.Pro449=
  • NP_861968.1:p.Pro407=
  • NP_861969.1:p.Pro407=
  • NP_861970.1:p.Pro490=
  • LRG_511t1:c.1470G>A
  • LRG_511t2:c.1470G>A
  • LRG_511:g.79664G>A
  • LRG_511p1:p.Pro490=
  • LRG_511p2:p.Pro490=
  • NC_000022.10:g.30074208G>A
  • NM_000268.3:c.1470G>A
  • NM_181832.2:c.1470G>A
  • NR_156186.2:n.1952G>A
Links:
dbSNP: rs373442542
NCBI 1000 Genomes Browser:
rs373442542
Molecular consequence:
  • NM_181833.3:c.448-16533G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NR_156186.2:n.1952G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000268.4:c.1470G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_016418.5:c.1470G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181825.3:c.1470G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181828.3:c.1344G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181829.3:c.1347G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181830.3:c.1221G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181831.3:c.1221G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_181832.3:c.1470G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002697008Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Oct 31, 2019) 		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, SCV002697008.2

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Oct 26, 2024