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NM_144775.3(SMCR8):c.1315A>G (p.Lys439Glu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 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:
RCV004667822.1

Allele description [Variation Report for NM_144775.3(SMCR8):c.1315A>G (p.Lys439Glu)]

NM_144775.3(SMCR8):c.1315A>G (p.Lys439Glu)

Gene:
SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
NM_144775.3(SMCR8):c.1315A>G (p.Lys439Glu)
HGVS:
  • NC_000017.11:g.18317104A>G
  • NM_144775.3:c.1315A>GMANE SELECT
  • NP_658988.2:p.Lys439Glu
  • NC_000017.10:g.18220418A>G
  • NM_144775.2:c.1315A>G
Protein change:
K439E
Molecular consequence:
  • NM_144775.3:c.1315A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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  • olfactory receptor 6C68 [Homo sapiens]
    olfactory receptor 6C68 [Homo sapiens]
    gi|331028608|ref|NP_001005519.2|
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  • Microscopy, Fluorescence, Multiphoton
    Microscopy, Fluorescence, Multiphoton
    Fluorescence microscopy utilizing multiple low-energy photons to produce the excitation event of the fluorophore (endogenous fluorescent molecules in living tissues or FLUORES...<br/>Year introduced: 2003
    MeSH
  • Consumer Product Safety
    Consumer Product Safety
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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005171289Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 17, 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, SCV005171289.1

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

Description

The c.1315A>G (p.K439E) alteration is located in exon 1 (coding exon 1) of the SMCR8 gene. This alteration results from a A to G substitution at nucleotide position 1315, causing the lysine (K) at amino acid position 439 to be replaced by a glutamic acid (E). 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: Aug 11, 2024