NM_000546.6(TP53):c.408A>G (p.Gln136=) AND Li-Fraumeni syndrome 1

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Apr 11, 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:: RCV000411231.6

Allele description [Variation Report for NM_000546.6(TP53):c.408A>G (p.Gln136=)]

NM_000546.6(TP53):c.408A>G (p.Gln136=)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.408A>G (p.Gln136=)

HGVS:

NC_000017.11:g.7675204T>C
NG_017013.2:g.17347A>G
NM_000546.6:c.408A>GMANE SELECT
NM_001126112.3:c.408A>G
NM_001126113.3:c.408A>G
NM_001126114.3:c.408A>G
NM_001126115.2:c.12A>G
NM_001126116.2:c.12A>G
NM_001126117.2:c.12A>G
NM_001126118.2:c.291A>G
NM_001276695.3:c.291A>G
NM_001276696.3:c.291A>G
NM_001276697.3:c.-70A>G
NM_001276698.3:c.-70A>G
NM_001276699.3:c.-70A>G
NM_001276760.3:c.291A>G
NM_001276761.3:c.291A>G
NP_000537.3:p.Gln136=
NP_000537.3:p.Gln136=
NP_001119584.1:p.Gln136=
NP_001119585.1:p.Gln136=
NP_001119586.1:p.Gln136=
NP_001119587.1:p.Gln4=
NP_001119588.1:p.Gln4=
NP_001119589.1:p.Gln4=
NP_001119590.1:p.Gln97=
NP_001263624.1:p.Gln97=
NP_001263625.1:p.Gln97=
NP_001263689.1:p.Gln97=
NP_001263690.1:p.Gln97=
LRG_321t1:c.408A>G
LRG_321:g.17347A>G
LRG_321p1:p.Gln136=
NC_000017.10:g.7578522T>C
NM_000546.4:c.408A>G
NM_000546.5:c.408A>G
p.Q136Q

Links:

dbSNP: rs758781593

NCBI 1000 Genomes Browser:

rs758781593

Molecular consequence:

NM_001276697.3:c.-70A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-70A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-70A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126112.3:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126113.3:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126114.3:c.408A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126115.2:c.12A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126116.2:c.12A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126117.2:c.12A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001126118.2:c.291A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276695.3:c.291A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276696.3:c.291A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276760.3:c.291A>G - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001276761.3:c.291A>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Li-Fraumeni syndrome 1 (LFS)
Identifiers:: Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000489499	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Oct 18, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV002582900	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Jun 18, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004017844	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Benign (Apr 11, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000489499

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Likely benign
(Oct 18, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV002582900

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely benign
(Jun 18, 2022)

germline

clinical testing

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

SCV004017844

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Benign
(Apr 11, 2023)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Counsyl, SCV000489499.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV002582900.1

#	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	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Myriad Genetics, Inc., SCV004017844.1

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

Description

This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

#	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

Last Updated: Nov 10, 2024

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