NM_004208.4(AIFM1):c.996A>G (p.Gln332=) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Nov 21, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000676786.19

Allele description [Variation Report for NM_004208.4(AIFM1):c.996A>G (p.Gln332=)]

NM_004208.4(AIFM1):c.996A>G (p.Gln332=)

Genes:

RAB33A:RAB33A, member RAS oncogene family [Gene - OMIM - HGNC]
AIFM1:apoptosis inducing factor mitochondria associated 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.1

Genomic location:

Preferred name:

NM_004208.4(AIFM1):c.996A>G (p.Gln332=)

Other names:

p.Q332Q:CAA>CAG

HGVS:

NC_000023.11:g.130137157T>C
NG_013217.1:g.33677A>G
NM_001130846.4:c.-22A>G
NM_001130847.4:c.*224A>G
NM_004208.4:c.996A>GMANE SELECT
NM_145812.3:c.984A>G
NP_004199.1:p.Gln332=
NP_665811.1:p.Gln328=
NC_000023.10:g.129271132T>C
NM_001130847.3:c.*224A>G
NM_004208.3:c.996A>G
NR_132647.2:n.1241A>G

Links:

dbSNP: rs12007545

NCBI 1000 Genomes Browser:

rs12007545

Molecular consequence:

NM_001130847.4:c.*224A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001130846.4:c.-22A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_132647.2:n.1241A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_004208.4:c.996A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_145812.3:c.984A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000802588	Mayo Clinic Laboratories, Mayo Clinic	no assertion criteria provided	Benign (Mar 11, 2016)	unknown	clinical testing
SCV001142971	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Benign (Aug 30, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002048596	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 21, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000802588

Mayo Clinic Laboratories, Mayo Clinic

no assertion criteria provided

Benign
(Mar 11, 2016)

unknown

clinical testing

SCV001142971

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Benign
(Aug 30, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002048596

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 21, 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
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]

PMID:: 26467025
PMCID:: PMC4737317

Details of each submission

From Mayo Clinic Laboratories, Mayo Clinic, SCV000802588.1

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

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

From Athena Diagnostics Inc, SCV001142971.1

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

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV002048596.2

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

#	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: Apr 20, 2024

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