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NM_001385012.1(NBEA):c.6656G>A (p.Arg2219His) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 11, 2018
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:
RCV000732823.4

Allele description [Variation Report for NM_001385012.1(NBEA):c.6656G>A (p.Arg2219His)]

NM_001385012.1(NBEA):c.6656G>A (p.Arg2219His)

Gene:
NBEA:neurobeachin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.3
Genomic location:
Preferred name:
NM_001385012.1(NBEA):c.6656G>A (p.Arg2219His)
HGVS:
  • NC_000013.11:g.35550547G>A
  • NG_028156.1:g.613261G>A
  • NM_001204197.3:c.35G>A
  • NM_001379245.1:c.6647G>A
  • NM_001385012.1:c.6656G>AMANE SELECT
  • NM_015678.5:c.6656G>A
  • NP_001191126.1:p.Arg12His
  • NP_001366174.1:p.Arg2216His
  • NP_001371941.1:p.Arg2219His
  • NP_056493.3:p.Arg2219His
  • LRG_602t1:c.6656G>A
  • LRG_602t2:c.35G>A
  • LRG_602t3:c.6656G>A
  • LRG_602:g.613261G>A
  • LRG_602p1:p.Arg2219His
  • LRG_602p2:p.Arg12His
  • LRG_602p3:p.Arg2219His
  • NC_000013.10:g.36124684G>A
Protein change:
R12H
Links:
dbSNP: rs200705969
NCBI 1000 Genomes Browser:
rs200705969
Molecular consequence:
  • NM_001204197.3:c.35G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379245.1:c.6647G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385012.1:c.6656G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015678.5:c.6656G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000860813Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL ClinVar v180209 classification definitions)
Uncertain significance
(Apr 11, 2018)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000860813.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 1, 2023