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NM_001385012.1(NBEA):c.3391A>G (p.Thr1131Ala) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 30, 2020
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:
RCV001267096.4

Allele description [Variation Report for NM_001385012.1(NBEA):c.3391A>G (p.Thr1131Ala)]

NM_001385012.1(NBEA):c.3391A>G (p.Thr1131Ala)

Gene:
NBEA:neurobeachin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q13.3
Genomic location:
Preferred name:
NM_001385012.1(NBEA):c.3391A>G (p.Thr1131Ala)
HGVS:
  • NC_000013.11:g.35159562A>G
  • NG_028156.1:g.222276A>G
  • NM_001379245.1:c.3391A>G
  • NM_001385012.1:c.3391A>GMANE SELECT
  • NM_015678.5:c.3391A>G
  • NP_001366174.1:p.Thr1131Ala
  • NP_001371941.1:p.Thr1131Ala
  • NP_056493.3:p.Thr1131Ala
  • LRG_602t1:c.3391A>G
  • LRG_602t3:c.3391A>G
  • LRG_602:g.222276A>G
  • LRG_602p1:p.Thr1131Ala
  • LRG_602p3:p.Thr1131Ala
  • NC_000013.10:g.35733699A>G
  • NM_015678.4:c.3391A>G
Protein change:
T1131A
Links:
dbSNP: rs2069410292
NCBI 1000 Genomes Browser:
rs2069410292
Molecular consequence:
  • NM_001379245.1:c.3391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001385012.1:c.3391A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015678.5:c.3391A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001445277Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 30, 2020) 		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, SCV001445277.4

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

Description

The alteration results in an amino acid change:_x000D_ _x000D_ The c.3391A>G (p.T1131A) alteration is located in coding exon 22 of the NBEA gene. This alteration results from an A to G substitution at nucleotide position 3391, causing the threonine (T) at amino acid position 1131 to be replaced by an alanine (A). The alteration is not observed in population databases:_x000D_ _x000D_ Based on data from the Genome Aggregation Database (gnomAD), the NBEA c.3391A>G alteration was not observed, with coverage at this position. The altered amino acid is conserved throughout evolution:_x000D_ _x000D_ The p.T1131 amino acid is conserved in available vertebrate species. The alteration is predicted tolerated by in silico modeling:_x000D_ _x000D_ The p.T1131A alteration is predicted to be tolerated by in silico analysis. 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: May 1, 2024