NM_001395002.1(MAP4K4):c.2638G>A (p.Ala880Thr) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 15, 2023
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV003376972.2
Allele description [Variation Report for NM_001395002.1(MAP4K4):c.2638G>A (p.Ala880Thr)]
NM_001395002.1(MAP4K4):c.2638G>A (p.Ala880Thr)
- Genes:
- LOC122817718:Sharpr-MPRA regulatory region 3767 [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.2638G>A (p.Ala880Thr)
- HGVS:
- NC_000002.12:g.101869796G>A
- NG_076990.1:g.270G>A
- NM_001242559.2:c.2395G>A
- NM_001242560.2:c.2383G>A
- NM_001384476.1:c.2473G>A
- NM_001384477.1:c.2470G>A
- NM_001384478.1:c.2152G>A
- NM_001384480.1:c.2152G>A
- NM_001384481.1:c.2398G>A
- NM_001384482.1:c.2143G>A
- NM_001384483.1:c.2233G>A
- NM_001384484.1:c.2476G>A
- NM_001384485.1:c.2476G>A
- NM_001384486.1:c.2407G>A
- NM_001384487.1:c.2374G>A
- NM_001384488.1:c.2404G>A
- NM_001384489.1:c.1654G>A
- NM_001384490.1:c.2245G>A
- NM_001384491.1:c.2380G>A
- NM_001384492.1:c.2542G>A
- NM_001384493.1:c.2476G>A
- NM_001384494.1:c.2242G>A
- NM_001384495.1:c.2152G>A
- NM_001384496.1:c.2236G>A
- NM_001384497.1:c.2629G>A
- NM_001384505.1:c.1114G>A
- NM_001384506.1:c.2638G>A
- NM_001384507.1:c.2407G>A
- NM_001384508.1:c.2470G>A
- NM_001384509.1:c.2371G>A
- NM_001384520.1:c.2536G>A
- NM_001384543.1:c.2545G>A
- NM_001384544.1:c.1561G>A
- NM_001384545.1:c.1561G>A
- NM_001384548.1:c.2389G>A
- NM_001384549.1:c.2125G>A
- NM_001384550.1:c.2362G>A
- NM_001384551.1:c.2287G>A
- NM_001384552.1:c.2446G>A
- NM_001384553.1:c.2443G>A
- NM_001384554.1:c.2347G>A
- NM_001384555.1:c.2449G>A
- NM_001384556.1:c.2440G>A
- NM_001384557.1:c.2278G>A
- NM_001384558.1:c.2356G>A
- NM_001384559.1:c.2122G>A
- NM_001384560.1:c.2209G>A
- NM_001384561.1:c.2125G>A
- NM_001384562.1:c.2443G>A
- NM_001384563.1:c.2440G>A
- NM_001384564.1:c.2509G>A
- NM_001384567.1:c.2356G>A
- NM_001384572.1:c.2449G>A
- NM_001384579.1:c.2380G>A
- NM_001395002.1:c.2638G>AMANE SELECT
- NM_004834.5:c.2149G>A
- NM_145686.4:c.2305G>A
- NM_145687.4:c.2314G>A
- NP_001229488.1:p.Ala799Thr
- NP_001229489.1:p.Ala795Thr
- NP_001371405.1:p.Ala825Thr
- NP_001371406.1:p.Ala824Thr
- NP_001371407.1:p.Ala718Thr
- NP_001371409.1:p.Ala718Thr
- NP_001371410.1:p.Ala800Thr
- NP_001371411.1:p.Ala715Thr
- NP_001371412.1:p.Ala745Thr
- NP_001371413.1:p.Ala826Thr
- NP_001371414.1:p.Ala826Thr
- NP_001371415.1:p.Ala803Thr
- NP_001371416.1:p.Ala792Thr
- NP_001371417.1:p.Ala802Thr
- NP_001371418.1:p.Ala552Thr
- NP_001371419.1:p.Ala749Thr
- NP_001371420.1:p.Ala794Thr
- NP_001371421.1:p.Ala848Thr
- NP_001371422.1:p.Ala826Thr
- NP_001371423.1:p.Ala748Thr
- NP_001371424.1:p.Ala718Thr
- NP_001371425.1:p.Ala746Thr
- NP_001371426.1:p.Ala877Thr
- NP_001371434.1:p.Ala372Thr
- NP_001371435.1:p.Ala880Thr
- NP_001371436.1:p.Ala803Thr
- NP_001371437.1:p.Ala824Thr
- NP_001371438.1:p.Ala791Thr
- NP_001371449.1:p.Ala846Thr
- NP_001371472.1:p.Ala849Thr
- NP_001371473.1:p.Ala521Thr
- NP_001371474.1:p.Ala521Thr
- NP_001371477.1:p.Ala797Thr
- NP_001371478.1:p.Ala709Thr
- NP_001371479.1:p.Ala788Thr
- NP_001371480.1:p.Ala763Thr
- NP_001371481.1:p.Ala816Thr
- NP_001371482.1:p.Ala815Thr
- NP_001371483.1:p.Ala783Thr
- NP_001371484.1:p.Ala817Thr
- NP_001371485.1:p.Ala814Thr
- NP_001371486.1:p.Ala760Thr
- NP_001371487.1:p.Ala786Thr
- NP_001371488.1:p.Ala708Thr
- NP_001371489.1:p.Ala737Thr
- NP_001371490.1:p.Ala709Thr
- NP_001371491.1:p.Ala815Thr
- NP_001371492.1:p.Ala814Thr
- NP_001371493.1:p.Ala837Thr
- NP_001371496.1:p.Ala786Thr
- NP_001371501.1:p.Ala817Thr
- NP_001371508.1:p.Ala794Thr
- NP_001381931.1:p.Ala880Thr
- NP_004825.3:p.Ala717Thr
- NP_663719.2:p.Ala769Thr
- NP_663720.1:p.Ala772Thr
- NC_000002.11:g.102486258G>A
- NM_145686.3:c.2305G>A
- NR_169279.1:n.2771G>A
- NR_169280.1:n.2678G>A
- NR_169281.1:n.2678G>A
- NR_169282.1:n.2231G>A
This HGVS expression did not pass validation- Protein change:
- A372T
- Molecular consequence:
- NM_001242559.2:c.2395G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001242560.2:c.2383G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384476.1:c.2473G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384477.1:c.2470G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384478.1:c.2152G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384480.1:c.2152G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384481.1:c.2398G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384482.1:c.2143G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384483.1:c.2233G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384484.1:c.2476G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384485.1:c.2476G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384486.1:c.2407G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384487.1:c.2374G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384488.1:c.2404G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384489.1:c.1654G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384490.1:c.2245G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384491.1:c.2380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384492.1:c.2542G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384493.1:c.2476G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384494.1:c.2242G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384495.1:c.2152G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384496.1:c.2236G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384497.1:c.2629G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384505.1:c.1114G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384506.1:c.2638G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384507.1:c.2407G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384508.1:c.2470G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384509.1:c.2371G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384520.1:c.2536G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384543.1:c.2545G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384544.1:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384545.1:c.1561G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384548.1:c.2389G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384549.1:c.2125G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384550.1:c.2362G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384551.1:c.2287G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384552.1:c.2446G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384553.1:c.2443G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384554.1:c.2347G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384555.1:c.2449G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384556.1:c.2440G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384557.1:c.2278G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384558.1:c.2356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384559.1:c.2122G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384560.1:c.2209G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384561.1:c.2125G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384562.1:c.2443G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384563.1:c.2440G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384564.1:c.2509G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384567.1:c.2356G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384572.1:c.2449G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001384579.1:c.2380G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_001395002.1:c.2638G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_004834.5:c.2149G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_145686.4:c.2305G>A - missense variant - [Sequence Ontology: SO:0001583]
- NM_145687.4:c.2314G>A - missense variant - [Sequence Ontology: SO:0001583]
- NR_169279.1:n.2771G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169280.1:n.2678G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169281.1:n.2678G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
- NR_169282.1:n.2231G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004095545 | Ambry Genetics | criteria provided, single submitter (Ambry Variant Classification Scheme 2023) | Uncertain significance (Aug 15, 2023) | germline | clinical testing |
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, SCV004095545.2
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | not provided | not provided | not provided | clinical testing | not provided |
Description
The c.2305G>A (p.A769T) alteration is located in exon 20 (coding exon 20) of the MAP4K4 gene. This alteration results from a G to A substitution at nucleotide position 2305, causing the alanine (A) at amino acid position 769 to be replaced by a threonine (T). 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 1, 2024