NM_002382.5(MAX):c.208T>C (p.Tyr70His) AND Hereditary pheochromocytoma-paraganglioma

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 12, 2024
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:: RCV002613864.3

Allele description

NM_002382.5(MAX):c.208T>C (p.Tyr70His)

Gene:

MAX:MYC associated factor X [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q23.3

Genomic location:

Preferred name:

NM_002382.5(MAX):c.208T>C (p.Tyr70His)

HGVS:

NC_000014.9:g.65078000A>G
NG_029830.1:g.29510T>C
NG_129272.1:g.698A>G
NM_001271069.2:c.144+15708T>C
NM_001320415.2:c.-67T>C
NM_001407094.1:c.208T>C
NM_001407095.1:c.181T>C
NM_001407096.1:c.208T>C
NM_001407097.1:c.208T>C
NM_001407098.1:c.100T>C
NM_001407099.1:c.181T>C
NM_001407100.1:c.181T>C
NM_001407101.1:c.181T>C
NM_001407102.1:c.181T>C
NM_001407103.1:c.208T>C
NM_001407104.1:c.208T>C
NM_001407105.1:c.-67T>C
NM_001407106.1:c.-67T>C
NM_001407107.1:c.-67T>C
NM_001407108.1:c.181T>C
NM_001407109.1:c.181T>C
NM_001407110.1:c.181T>C
NM_001407111.1:c.-160T>C
NM_001407112.1:c.-160T>C
NM_002382.5:c.208T>CMANE SELECT
NM_145112.3:c.181T>C
NM_145113.3:c.208T>C
NM_197957.4:c.171+15708T>C
NP_001394023.1:p.Tyr70His
NP_001394024.1:p.Tyr61His
NP_001394025.1:p.Tyr70His
NP_001394026.1:p.Tyr70His
NP_001394027.1:p.Tyr34His
NP_001394028.1:p.Tyr61His
NP_001394029.1:p.Tyr61His
NP_001394030.1:p.Tyr61His
NP_001394031.1:p.Tyr61His
NP_001394032.1:p.Tyr70His
NP_001394033.1:p.Tyr70His
NP_001394037.1:p.Tyr61His
NP_001394038.1:p.Tyr61His
NP_001394039.1:p.Tyr61His
NP_002373.3:p.Tyr70His
NP_002373.3:p.Tyr70His
NP_660087.1:p.Tyr61His
NP_660088.1:p.Tyr70His
LRG_530t1:c.208T>C
LRG_530:g.29510T>C
LRG_530p1:p.Tyr70His
NC_000014.8:g.65544718A>G
NM_002382.3:c.208T>C
NR_073137.1:n.332T>C
NR_073137.2:n.332T>C
NR_176275.1:n.350T>C
NR_176278.1:n.181T>C
NR_176279.1:n.284T>C
NR_176280.1:n.350T>C
NR_176281.1:n.350T>C
NR_176282.1:n.154T>C

Protein change:

Y34H

Molecular consequence:

NM_001320415.2:c.-67T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001271069.2:c.144+15708T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_197957.4:c.171+15708T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001407094.1:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407095.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407096.1:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407097.1:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407098.1:c.100T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407099.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407100.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407101.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407102.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407103.1:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407104.1:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407108.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407109.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407110.1:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002382.5:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145112.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_145113.3:c.208T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary pheochromocytoma-paraganglioma
Synonyms:: Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary Paragangliomas and Pheochromocytomas
Identifiers:: MONDO: MONDO:0017366; MedGen: C1708353

Recent activity

Clear Turn Off Turn On

Abnormal external genitalia
Abnormal external genitalia

MedGen

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002961383	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 12, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002961383

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 12, 2024)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002961383.2

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

Description

This sequence change replaces tyrosine, which is neutral and polar, with histidine, which is basic and polar, at codon 70 of the MAX protein (p.Tyr70His). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MAX-related conditions. ClinVar contains an entry for this variant (Variation ID: 1924557). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant¬†is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Jun 23, 2024

ClinVar

Relating variation to medicine