NM_012429.5(SEC14L2):c.34C>G (p.Gln12Glu) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 28, 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:: RCV004447473.1

Allele description [Variation Report for NM_012429.5(SEC14L2):c.34C>G (p.Gln12Glu)]

NM_012429.5(SEC14L2):c.34C>G (p.Gln12Glu)

Gene:

SEC14L2:SEC14 like lipid binding 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.2

Genomic location:

Preferred name:

NM_012429.5(SEC14L2):c.34C>G (p.Gln12Glu)

HGVS:

NC_000022.11:g.30397150C>G
NM_001204204.3:c.34C>G
NM_001291932.2:c.-53C>G
NM_012429.5:c.34C>GMANE SELECT
NM_033382.3:c.34C>G
NP_001191133.1:p.Gln12Glu
NP_036561.1:p.Gln12Glu
NP_203740.1:p.Gln12Glu
NC_000022.10:g.30793139C>G
NM_012429.3:c.34C>G

Protein change:

Q12E

Molecular consequence:

NM_001291932.2:c.-53C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001204204.3:c.34C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012429.5:c.34C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_033382.3:c.34C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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MAG: hypothetical protein GW906_11310 [Epsilonproteobacteria bacterium]
MAG: hypothetical protein GW906_11310 [Epsilonproteobacteria bacterium]
gb|NCO02394.1||gnl|WGS:JAACVB|GW906 0

Protein
deoxyguanosine kinase, mitochondrial isoform X4 [Rattus norvegicus]
deoxyguanosine kinase, mitochondrial isoform X4 [Rattus norvegicus]
gi|672050160|ref|XP_008761279.1|

Protein
LOC120094162 uncharacterized LOC120094162 [Rattus norvegicus]
LOC120094162 uncharacterized LOC120094162 [Rattus norvegicus]
Gene ID:120094162

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004945381	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Dec 28, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004945381

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Dec 28, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004945381.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.34C>G (p.Q12E) alteration is located in exon 1 (coding exon 1) of the SEC14L2 gene. This alteration results from a C to G substitution at nucleotide position 34, causing the glutamine (Q) at amino acid position 12 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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