NM_000051.4(ATM):c.8671+9T>G AND Familial colorectal cancer type X

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 31, 2025
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:: RCV005359171.1

Allele description [Variation Report for NM_000051.4(ATM):c.8671+9T>G]

NM_000051.4(ATM):c.8671+9T>G

Genes:

ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
C11orf65:chromosome 11 open reading frame 65 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q22.3

Genomic location:

Preferred name:

NM_000051.4(ATM):c.8671+9T>G

HGVS:

NC_000011.10:g.108347374T>G
NG_009830.1:g.129543T>G
NG_054724.1:g.127459A>C
NM_000051.4:c.8671+9T>GMANE SELECT
NM_001330368.2:c.641-38303A>C
NM_001351110.2:c.695-12082A>C
NM_001351834.2:c.8671+9T>G
LRG_135t1:c.8671+9T>G
LRG_135:g.129543T>G
NC_000011.9:g.108218101T>G
NM_000051.3:c.8671+9T>G

Links:

dbSNP: rs200190537

NCBI 1000 Genomes Browser:

rs200190537

Molecular consequence:

NM_000051.4:c.8671+9T>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330368.2:c.641-38303A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001351110.2:c.695-12082A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001351834.2:c.8671+9T>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Familial colorectal cancer type X
Identifiers:: MONDO: MONDO:0018604; MedGen: C3896578

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005919306	Department of Pathology and Laboratory Medicine, Sinai Health System	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 31, 2025)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 21933854, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005919306

Department of Pathology and Laboratory Medicine, Sinai Health System

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 31, 2025)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.

Skowronska A, Austen B, Powell JE, Weston V, Oscier DG, Dyer MJ, Matutes E, Pratt G, Fegan C, Moss P, Taylor MA, Stankovic T.

Haematologica. 2012 Jan;97(1):142-6. doi: 10.3324/haematol.2011.048827. Epub 2011 Sep 20.

PubMed [citation]

PMID:: 21933854
PMCID:: PMC3248944

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 Department of Pathology and Laboratory Medicine, Sinai Health System, SCV005919306.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

#	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: Dec 7, 2025

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