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NM_018036.7(ATG2B):c.5835C>A (p.Asn1945Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV004423379.1

Allele description [Variation Report for NM_018036.7(ATG2B):c.5835C>A (p.Asn1945Lys)]

NM_018036.7(ATG2B):c.5835C>A (p.Asn1945Lys)

Gene:
ATG2B:autophagy related 2B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.2
Genomic location:
Preferred name:
NM_018036.7(ATG2B):c.5835C>A (p.Asn1945Lys)
HGVS:
  • NC_000014.9:g.96290457G>T
  • NG_051091.1:g.77945C>A
  • NG_051091.2:g.77884C>A
  • NM_018036.7:c.5835C>AMANE SELECT
  • NP_060506.6:p.Asn1945Lys
  • NC_000014.8:g.96756794G>T
  • NM_018036.5:c.5835C>A
Protein change:
N1945K
Molecular consequence:
  • NM_018036.7:c.5835C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004909955Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 1, 2024) 		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, SCV004909955.1

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

Description

The c.5835C>A (p.N1945K) alteration is located in exon 40 (coding exon 40) of the ATG2B gene. This alteration results from a C to A substitution at nucleotide position 5835, causing the asparagine (N) at amino acid position 1945 to be replaced by a lysine (K). 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 7, 2024