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NM_144775.3(SMCR8):c.214T>G (p.Leu72Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 17, 2023
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:
RCV004300806.1

Allele description [Variation Report for NM_144775.3(SMCR8):c.214T>G (p.Leu72Val)]

NM_144775.3(SMCR8):c.214T>G (p.Leu72Val)

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.214T>G (p.Leu72Val)
HGVS:
  • NC_000017.11:g.18316003T>G
  • NM_144775.3:c.214T>GMANE SELECT
  • NP_658988.2:p.Leu72Val
  • NC_000017.10:g.18219317T>G
  • NM_144775.2:c.214T>G
Protein change:
L72V
Molecular consequence:
  • NM_144775.3:c.214T>G - 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
SCV003964309Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 17, 2023) 		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, SCV003964309.2

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

Description

The c.214T>G (p.L72V) alteration is located in exon 1 (coding exon 1) of the SMCR8 gene. This alteration results from a T to G substitution at nucleotide position 214, causing the leucine (L) at amino acid position 72 to be replaced by a valine (V). 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: Nov 10, 2024