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NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 7, 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:
RCV000755830.9

Allele description [Variation Report for NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)]

NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)

Gene:
ATL1:atlastin GTPase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q22.1
Genomic location:
Preferred name:
NM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)
HGVS:
  • NC_000014.9:g.50628457G>A
  • NG_009028.1:g.100376G>A
  • NM_001127713.1:c.1546G>A
  • NM_015915.5:c.1546G>AMANE SELECT
  • NM_181598.4:c.1546G>A
  • NP_001121185.1:p.Asp516Asn
  • NP_056999.2:p.Asp516Asn
  • NP_056999.2:p.Asp516Asn
  • NP_853629.2:p.Asp516Asn
  • LRG_360t1:c.1546G>A
  • LRG_360t2:c.1546G>A
  • LRG_360:g.100376G>A
  • LRG_360p1:p.Asp516Asn
  • LRG_360p2:p.Asp516Asn
  • NC_000014.8:g.51095175G>A
  • NM_015915.4:c.1546G>A
Protein change:
D516N
Links:
dbSNP: rs776441162
NCBI 1000 Genomes Browser:
rs776441162
Molecular consequence:
  • NM_001127713.1:c.1546G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015915.5:c.1546G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_181598.4:c.1546G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000883419ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process)		Uncertain significance
(Mar 7, 2018) 		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 ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV000883419.1

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

Description

The ATL1 c.1546G>A; p.Asp516Asn variant (rs776441162), to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory. This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.0004% (identified on 1 out of 245,802 chromosomes). The aspartic acid at position 516 is highly conserved, considering 11 species, and computational analyses of the effects of the p.Asp516Asn variant on protein structure and function do not predict a deleterious effect (SIFT: tolerated, PolyPhen-2: benign). Based on the available information, the clinical significance of the p.Asp516Asn variant cannot be determined with certainty.

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

Last Updated: Sep 29, 2024