NM_001395002.1(MAP4K4):c.940G>A (p.Gly314Ser) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 1, 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:: RCV004725981.1

Allele description [Variation Report for NM_001395002.1(MAP4K4):c.940G>A (p.Gly314Ser)]

NM_001395002.1(MAP4K4):c.940G>A (p.Gly314Ser)

Gene:

MAP4K4:mitogen-activated protein kinase kinase kinase kinase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q11.2

Genomic location:

Preferred name:

NM_001395002.1(MAP4K4):c.940G>A (p.Gly314Ser)

HGVS:

NC_000002.12:g.101839985G>A
NM_001242559.2:c.940G>A
NM_001242560.2:c.940G>A
NM_001384476.1:c.940G>A
NM_001384477.1:c.940G>A
NM_001384478.1:c.940G>A
NM_001384481.1:c.940G>A
NM_001384482.1:c.940G>A
NM_001384483.1:c.940G>A
NM_001384484.1:c.940G>A
NM_001384485.1:c.940G>A
NM_001384486.1:c.940G>A
NM_001384487.1:c.940G>A
NM_001384488.1:c.940G>A
NM_001384490.1:c.940G>A
NM_001384491.1:c.940G>A
NM_001384492.1:c.940G>A
NM_001384493.1:c.940G>A
NM_001384494.1:c.940G>A
NM_001384495.1:c.940G>A
NM_001384496.1:c.940G>A
NM_001384497.1:c.940G>A
NM_001384506.1:c.940G>A
NM_001384507.1:c.940G>A
NM_001384508.1:c.940G>A
NM_001384509.1:c.940G>A
NM_001384520.1:c.940G>A
NM_001384543.1:c.940G>A
NM_001384548.1:c.940G>A
NM_001384549.1:c.913G>A
NM_001384550.1:c.913G>A
NM_001384551.1:c.913G>A
NM_001384552.1:c.913G>A
NM_001384553.1:c.913G>A
NM_001384554.1:c.913G>A
NM_001384555.1:c.913G>A
NM_001384556.1:c.913G>A
NM_001384557.1:c.913G>A
NM_001384558.1:c.913G>A
NM_001384559.1:c.913G>A
NM_001384560.1:c.913G>A
NM_001384561.1:c.913G>A
NM_001384562.1:c.913G>A
NM_001384563.1:c.913G>A
NM_001384564.1:c.913G>A
NM_001384567.1:c.913G>A
NM_001384572.1:c.913G>A
NM_001384579.1:c.913G>A
NM_001395002.1:c.940G>AMANE SELECT
NM_004834.5:c.940G>A
NM_145686.4:c.940G>A
NM_145687.4:c.940G>A
NP_001229488.1:p.Gly314Ser
NP_001229489.1:p.Gly314Ser
NP_001371405.1:p.Gly314Ser
NP_001371406.1:p.Gly314Ser
NP_001371407.1:p.Gly314Ser
NP_001371410.1:p.Gly314Ser
NP_001371411.1:p.Gly314Ser
NP_001371412.1:p.Gly314Ser
NP_001371413.1:p.Gly314Ser
NP_001371414.1:p.Gly314Ser
NP_001371415.1:p.Gly314Ser
NP_001371416.1:p.Gly314Ser
NP_001371417.1:p.Gly314Ser
NP_001371419.1:p.Gly314Ser
NP_001371420.1:p.Gly314Ser
NP_001371421.1:p.Gly314Ser
NP_001371422.1:p.Gly314Ser
NP_001371423.1:p.Gly314Ser
NP_001371424.1:p.Gly314Ser
NP_001371425.1:p.Gly314Ser
NP_001371426.1:p.Gly314Ser
NP_001371435.1:p.Gly314Ser
NP_001371436.1:p.Gly314Ser
NP_001371437.1:p.Gly314Ser
NP_001371438.1:p.Gly314Ser
NP_001371449.1:p.Gly314Ser
NP_001371472.1:p.Gly314Ser
NP_001371477.1:p.Gly314Ser
NP_001371478.1:p.Gly305Ser
NP_001371479.1:p.Gly305Ser
NP_001371480.1:p.Gly305Ser
NP_001371481.1:p.Gly305Ser
NP_001371482.1:p.Gly305Ser
NP_001371483.1:p.Gly305Ser
NP_001371484.1:p.Gly305Ser
NP_001371485.1:p.Gly305Ser
NP_001371486.1:p.Gly305Ser
NP_001371487.1:p.Gly305Ser
NP_001371488.1:p.Gly305Ser
NP_001371489.1:p.Gly305Ser
NP_001371490.1:p.Gly305Ser
NP_001371491.1:p.Gly305Ser
NP_001371492.1:p.Gly305Ser
NP_001371493.1:p.Gly305Ser
NP_001371496.1:p.Gly305Ser
NP_001371501.1:p.Gly305Ser
NP_001371508.1:p.Gly305Ser
NP_001381931.1:p.Gly314Ser
NP_004825.3:p.Gly314Ser
NP_663719.2:p.Gly314Ser
NP_663720.1:p.Gly314Ser
NC_000002.11:g.102456447G>A
NM_145686.3:c.940G>A
NR_169279.1:n.1235G>A
NR_169280.1:n.1235G>A
NR_169281.1:n.1235G>A
NR_169282.1:n.1235G>A

Protein change:

G305S

Molecular consequence:

NM_001242559.2:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001242560.2:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384476.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384477.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384478.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384481.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384482.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384483.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384484.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384485.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384486.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384487.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384488.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384490.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384491.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384492.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384493.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384494.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384495.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384496.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384497.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384506.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384507.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384508.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384509.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384520.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384543.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384548.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384549.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384550.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384551.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384552.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384553.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384554.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384555.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384556.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384557.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384558.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384559.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384560.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384561.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384562.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384563.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384564.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384567.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384572.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001384579.1:c.913G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001395002.1:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004834.5:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_145686.4:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_145687.4:c.940G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_169279.1:n.1235G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169280.1:n.1235G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169281.1:n.1235G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_169282.1:n.1235G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV005334012	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (May 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005334012

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(May 1, 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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV005334012.1

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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

Last Updated: Oct 8, 2024

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