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NM_001395002.1(MAP4K4):c.2413C>A (p.Pro805Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 10, 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:
RCV003208259.2

Allele description [Variation Report for NM_001395002.1(MAP4K4):c.2413C>A (p.Pro805Thr)]

NM_001395002.1(MAP4K4):c.2413C>A (p.Pro805Thr)

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.2413C>A (p.Pro805Thr)
HGVS:
  • NC_000002.12:g.101867268C>A
  • NM_001242559.2:c.2179C>A
  • NM_001242560.2:c.2158C>A
  • NM_001384476.1:c.2248C>A
  • NM_001384477.1:c.2245C>A
  • NM_001384478.1:c.1927C>A
  • NM_001384480.1:c.1927C>A
  • NM_001384481.1:c.2182C>A
  • NM_001384482.1:c.1927C>A
  • NM_001384483.1:c.2017C>A
  • NM_001384484.1:c.2251C>A
  • NM_001384485.1:c.2251C>A
  • NM_001384486.1:c.2182C>A
  • NM_001384487.1:c.2158C>A
  • NM_001384488.1:c.2179C>A
  • NM_001384489.1:c.1429C>A
  • NM_001384490.1:c.2020C>A
  • NM_001384491.1:c.2155C>A
  • NM_001384492.1:c.2317C>A
  • NM_001384493.1:c.2251C>A
  • NM_001384494.1:c.2017C>A
  • NM_001384495.1:c.1927C>A
  • NM_001384496.1:c.2020C>A
  • NM_001384497.1:c.2413C>A
  • NM_001384505.1:c.889C>A
  • NM_001384506.1:c.2413C>A
  • NM_001384507.1:c.2182C>A
  • NM_001384508.1:c.2245C>A
  • NM_001384509.1:c.2155C>A
  • NM_001384520.1:c.2320C>A
  • NM_001384543.1:c.2320C>A
  • NM_001384544.1:c.1336C>A
  • NM_001384545.1:c.1336C>A
  • NM_001384548.1:c.2164C>A
  • NM_001384549.1:c.1900C>A
  • NM_001384550.1:c.2137C>A
  • NM_001384551.1:c.2062C>A
  • NM_001384552.1:c.2221C>A
  • NM_001384553.1:c.2218C>A
  • NM_001384554.1:c.2131C>A
  • NM_001384555.1:c.2224C>A
  • NM_001384556.1:c.2215C>A
  • NM_001384557.1:c.2062C>A
  • NM_001384558.1:c.2131C>A
  • NM_001384559.1:c.1897C>A
  • NM_001384560.1:c.1993C>A
  • NM_001384561.1:c.1900C>A
  • NM_001384562.1:c.2218C>A
  • NM_001384563.1:c.2215C>A
  • NM_001384564.1:c.2293C>A
  • NM_001384567.1:c.2131C>A
  • NM_001384572.1:c.2224C>A
  • NM_001384579.1:c.2155C>A
  • NM_001395002.1:c.2413C>AMANE SELECT
  • NM_004834.5:c.1924C>A
  • NM_145686.4:c.2089C>A
  • NM_145687.4:c.2089C>A
  • NP_001229488.1:p.Pro727Thr
  • NP_001229489.1:p.Pro720Thr
  • NP_001371405.1:p.Pro750Thr
  • NP_001371406.1:p.Pro749Thr
  • NP_001371407.1:p.Pro643Thr
  • NP_001371409.1:p.Pro643Thr
  • NP_001371410.1:p.Pro728Thr
  • NP_001371411.1:p.Pro643Thr
  • NP_001371412.1:p.Pro673Thr
  • NP_001371413.1:p.Pro751Thr
  • NP_001371414.1:p.Pro751Thr
  • NP_001371415.1:p.Pro728Thr
  • NP_001371416.1:p.Pro720Thr
  • NP_001371417.1:p.Pro727Thr
  • NP_001371418.1:p.Pro477Thr
  • NP_001371419.1:p.Pro674Thr
  • NP_001371420.1:p.Pro719Thr
  • NP_001371421.1:p.Pro773Thr
  • NP_001371422.1:p.Pro751Thr
  • NP_001371423.1:p.Pro673Thr
  • NP_001371424.1:p.Pro643Thr
  • NP_001371425.1:p.Pro674Thr
  • NP_001371426.1:p.Pro805Thr
  • NP_001371434.1:p.Pro297Thr
  • NP_001371435.1:p.Pro805Thr
  • NP_001371436.1:p.Pro728Thr
  • NP_001371437.1:p.Pro749Thr
  • NP_001371438.1:p.Pro719Thr
  • NP_001371449.1:p.Pro774Thr
  • NP_001371472.1:p.Pro774Thr
  • NP_001371473.1:p.Pro446Thr
  • NP_001371474.1:p.Pro446Thr
  • NP_001371477.1:p.Pro722Thr
  • NP_001371478.1:p.Pro634Thr
  • NP_001371479.1:p.Pro713Thr
  • NP_001371480.1:p.Pro688Thr
  • NP_001371481.1:p.Pro741Thr
  • NP_001371482.1:p.Pro740Thr
  • NP_001371483.1:p.Pro711Thr
  • NP_001371484.1:p.Pro742Thr
  • NP_001371485.1:p.Pro739Thr
  • NP_001371486.1:p.Pro688Thr
  • NP_001371487.1:p.Pro711Thr
  • NP_001371488.1:p.Pro633Thr
  • NP_001371489.1:p.Pro665Thr
  • NP_001371490.1:p.Pro634Thr
  • NP_001371491.1:p.Pro740Thr
  • NP_001371492.1:p.Pro739Thr
  • NP_001371493.1:p.Pro765Thr
  • NP_001371496.1:p.Pro711Thr
  • NP_001371501.1:p.Pro742Thr
  • NP_001371508.1:p.Pro719Thr
  • NP_001381931.1:p.Pro805Thr
  • NP_004825.3:p.Pro642Thr
  • NP_663719.2:p.Pro697Thr
  • NP_663720.1:p.Pro697Thr
  • NC_000002.11:g.102483730C>A
  • NM_145686.3:c.2089C>A
  • NR_169279.1:n.2546C>A
  • NR_169280.1:n.2453C>A
  • NR_169281.1:n.2453C>A
  • NR_169282.1:n.2006C>A
Protein change:
P297T
Molecular consequence:
  • NM_001242559.2:c.2179C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242560.2:c.2158C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384476.1:c.2248C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384477.1:c.2245C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384478.1:c.1927C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384480.1:c.1927C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384481.1:c.2182C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384482.1:c.1927C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384483.1:c.2017C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384484.1:c.2251C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384485.1:c.2251C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384486.1:c.2182C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384487.1:c.2158C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384488.1:c.2179C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384489.1:c.1429C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384490.1:c.2020C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384491.1:c.2155C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384492.1:c.2317C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384493.1:c.2251C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384494.1:c.2017C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384495.1:c.1927C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384496.1:c.2020C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384497.1:c.2413C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384505.1:c.889C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384506.1:c.2413C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384507.1:c.2182C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384508.1:c.2245C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384509.1:c.2155C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384520.1:c.2320C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384543.1:c.2320C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384544.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384545.1:c.1336C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384548.1:c.2164C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384549.1:c.1900C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384550.1:c.2137C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384551.1:c.2062C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384552.1:c.2221C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384553.1:c.2218C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384554.1:c.2131C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384555.1:c.2224C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384556.1:c.2215C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384557.1:c.2062C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384558.1:c.2131C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384559.1:c.1897C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384560.1:c.1993C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384561.1:c.1900C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384562.1:c.2218C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384563.1:c.2215C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384564.1:c.2293C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384567.1:c.2131C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384572.1:c.2224C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001384579.1:c.2155C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001395002.1:c.2413C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004834.5:c.1924C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145686.4:c.2089C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_145687.4:c.2089C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_169279.1:n.2546C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169280.1:n.2453C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169281.1:n.2453C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_169282.1:n.2006C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003884580Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 10, 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, SCV003884580.2

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

Description

The c.2089C>A (p.P697T) alteration is located in exon 19 (coding exon 19) of the MAP4K4 gene. This alteration results from a C to A substitution at nucleotide position 2089, causing the proline (P) at amino acid position 697 to be replaced by a threonine (T). 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: May 1, 2024